J. Saudubray

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Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases

F. Lamari, F. Sedel, F. Mochel, 2013, Journal of Inherited Metabolic Disease.

Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy.

F. Mochel, D. Rabier, C. Roe, 2005, Molecular genetics and metabolism.

Inborn Metabolic Diseases

M. Baumgartner, J. Saudubray, J. Walter, 1990 .

Inborn Metabolic Diseases

K. Tada, J. Saudubray, J. Fernandes, 1990, Springer Berlin Heidelberg.

Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation.

C. Obie, D. Valle, D. Labuda, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Peripheral neuropathy and inborn errors of metabolism in adults

F. Sedel, O. Dubourg, O. Lyon-Caen, 2007, Journal of Inherited Metabolic Disease.

Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11.

C. Junien, F. Brunelle, J. Saudubray, 2001, The American journal of pathology.

Diffuse and Focal Nesidioblastosis: A Clinicopathological Study of 24 Patients with Persistent Neonatal Hyperinsulinemic Hypoglycemia

G. Klöppel, J. Saudubray, J. Bonnefont, 1989, The American journal of surgical pathology.

Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.

C. Junien, F. Brunelle, J. Saudubray, 1997, The Journal of clinical investigation.

Neonatal hyperinsulinemic hypoglycemia: heterogeneity of the syndrome and keys for differential diagnosis.

C. Sempoux, J. Saudubray, Y. Guiot, 1998, The Journal of clinical endocrinology and metabolism.

Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency

A. Ribes, M. Wajner, B. Merinero, 2006, Pediatric Research.

The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia

A. Munnich, P. Rustin, A. Rötig, 1999, European Journal of Pediatrics.

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.

E. Bertini, E. Schaftingen, G. Matthijs, 1998, American journal of human genetics.

Antenatal manifestations of mitochondrial respiratory chain deficiency.

A. Munnich, F. Brunelle, P. Rustin, 2003, The Journal of pediatrics.

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.

A. Munnich, P. Rustin, A. Rötig, 1992, American journal of human genetics.

Creatine Deficiency Syndromes

J. Saudubray, S. Stockler-Ipsiroglu, J. Walter, 2015 .

Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children.

D. Rabier, J. Saudubray, P. Jouvet, 1999, Circulation.

Respiratory chain defects may present only with hypoglycemia.

P. Rustin, F. Mochel, D. Rabier, 2005, The Journal of clinical endocrinology and metabolism.

Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.

R. Wanders, T. Hashimoto, A. Komiyama, 1994, The Journal of clinical investigation.

Characterization of mutations in six L-CPT-I deficient patients

J. McGarry, J. Saudubray, P. Macleod, 2001 .

Defects in activation and transport of fatty acids

D. Rabier, J. Saudubray, A. Slama, 1999, Journal of Inherited Metabolic Disease.

Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient

D. Rabier, J. Saudubray, P. Kamoun, 2000, Neuromuscular Disorders.

Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.

S. Pande, J. Saudubray, A. Slama, 1993, The Journal of clinical investigation.

with Hepatomuscular Symptoms and Sudden Death Physiopathological Approach to Carnitine Palmitoyltransferase 11 Deficiencies

J. Saudubray, J. Bonnefont, C. Cepanec, 1991 .

Inborn Errors of Amino Acid Metabolism: The Best Strategy for Their Diagnosis

I. Durand-zaleski, P. Kamoun, J. Saudubray, 1992, International Journal of Technology Assessment in Health Care.

Secondary creatine deficiency in ornithine delta-aminotransferase deficiency.

F. Sedel, D. Seidenwurm, N. Boddaert, 2009, Molecular genetics and metabolism.

Sources of propionate in inborn errors of propionate metabolism.

S. Lyonnet, J. Leonard, J. Saudubray, 1990, Metabolism: clinical and experimental.

Methylmalonic and propionic acidaemias: Management and outcome

D. Rabier, J. Saudubray, G. Touati, 2005, Journal of Inherited Metabolic Disease.

USE OF AMNIOTIC FLUID AMINO ACIDS IN PRENATAL TESTING FOR ARGININOSUCCINIC ACIDURIA AND CITRULLINAEMIA

S. Packman, J. Saudubray, R. Laframboise, 1996, Prenatal diagnosis.

Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults

N. Baumann, F. Sedel, J. Saudubray, 2007, Journal of Inherited Metabolic Disease.

Hepatic peroxisomes in adrenoleukodystrophy and related syndromes: Cytochemical and morphometric data

B. Poll-The, J. Saudubray, F. Roels, 2004, Virchows Archiv A.

Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation

J. Saudubray, U. Wendel, P. Schadewaldt, 2000, Journal of Inherited Metabolic Disease.

Diagnostic Procedures: Function Tests and Postmortem Protocol

J. Saudubray, G. Touati, J. Huber, 2006 .

Metabolic intermediates in lactic acidosis: compounds, samples and interpretation

A. Munnich, D. Rabier, P. Kamoun, 1996, Journal of Inherited Metabolic Disease.

Movement disorders and inborn errors of metabolism in adults: A diagnostic approach

Y. Agid, M. Vidailhet, F. Sedel, 2008, Journal of Inherited Metabolic Disease.

Neurometabolic disorders

J. Saudubray, 2009, Journal of Inherited Metabolic Disease.

Therapy Insight: inborn errors of metabolism in adult neurology—a clinical approach focused on treatable diseases

F. Sedel, J. Saudubray, O. Lyon‐Caen, 2007, Nature Clinical Practice Neurology.

Dihydropteridine reductase deficiency: Levodopa’s long-term effectiveness without dyskinesia

Y. Agid, P. Remy, F. Sedel, 2006, Neurology.

Guanidinoacetate methyltransferase ( GAMT ) deficiency Author : Doctor

J. Saudubray, S. Stoeckler-Ipsiroglu, 2004 .

Liver transplantation in two cases of propionic acidaemia

Y. Révillon, A. Sewell, D. Rabier, 1995, Journal of Inherited Metabolic Disease.

Endocrine manifestations related to inherited metabolic diseases in adults

J. Saudubray, J. Wemeau, M. Vantyghem, 2012, Orphanet Journal of Rare Diseases.

Recognition and management of fatty acid oxidation defects: A series of 107 patients

D. Rabier, P. Kamoun, J. Saudubray, 1999, Journal of Inherited Metabolic Disease.

Protein and leucine metabolism in maple syrup urine disease.

J. Leonard, J. Saudubray, J. Bresson, 1990, The American journal of physiology.

Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine and amniotic fluid using electron capture negative ion mass fragmentography.

B. Poll-The, J. Saudubray, L. Kaster, 1987, Clinica chimica acta; international journal of clinical chemistry.

Inborn Metabolic Diseases

M. Baumgartner, J. Saudubray, J. Walter, 1995, Springer Berlin Heidelberg.

Immunoquantitative Analysis of Human Carnitine Palmitoyltransferase I and II Defects

J. Saudubray, J. Bonnefont, F. Demaugre, 1990, Pediatric Research.

Studies on Requirements for Amino Acids in Infants with Disorders of Amino Acid Metabolism. I. Effect of Alanine

W. Nyhan, J. Saudubray, D. Ney, 1985, Pediatric Research.

An evaluation of protein requirements in methylmalonic acidaemia

W. Nyhan, J. Saudubray, D. Ney, 1985, Journal of Inherited Metabolic Disease.

Trends in serum citrulline and acute rejection among recipients of small bowel transplants.

J. Thompson, F. Huijing, D. Rabier, 2004, Transplantation proceedings.

Alloisoleucine in isovaleric acidaemia

D. Rabier, P. Parvy, P. Kamoun, 1992, Journal of Inherited Metabolic Disease.

Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.

M. Bennett, J. McGarry, J. Saudubray, 2001, Journal of lipid research.

Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.

J. Saudubray, J. Bonnefont, F. Demaugre, 1991, The Journal of clinical investigation.

Decreased ketogenesis due to deficiency of hepatic carnitine acyl transferase.

P. Bougnères, J. Saudubray, J. Girard, 1980, The New England journal of medicine.

Clinical outcome and long-term management of 17 patients with propionic acidaemia

D. Rabier, P. Parvy, P. Kamoun, 1996, European Journal of Pediatrics.

Plasma Lysine Concentration and Availability of 2-Ketoglutarate in Liver Mitochondria

D. Rabier, P. Kamoun, J. Saudubray, 2002, Journal of Inherited Metabolic Disease.

Clinical approach to treatable inborn metabolic diseases: An introduction

F. Sedel, J. Saudubray, J. Walter, 2006, Journal of Inherited Metabolic Disease.

Infantile phytanic acid storage disease, a possible variant of Refsum's disease: Three cases, including ultrastructural studies of the liver

P. Beaune, O. Dulac, J. Saudubray, 1982, Journal of Inherited Metabolic Disease.

Genetic disorders of cellular trafficking.

J. Saudubray, D. Martinelli, C. Dionisi-Vici, 2022, Trends in genetics : TIG.

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

D. Valle, C. Stanley, P. Divry, 1991, Annals of neurology.

Pancreatic venous samplings in infants and children with primary hyperinsulinism

P. Czernichow, F. Brunelle, J. Saudubray, 2006, Pediatric Radiology.

Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism.

C. Stanley, C. Sempoux, F. Brunelle, 2004, The Journal of clinical endocrinology and metabolism.

LOCALISATION OF FOCAL LESION PERMITTING PARTIAL PANCREATECTOMY IN INFANTS

F. Brunelle, S. Lyonnet, J. Saudubray, 1989, The Lancet.

Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid

M. Durán, S. K. Wadman, W. Nyhan, 2004, European Journal of Pediatrics.

Octanoic acidemia and octanoylcarnitine excretion with dicarboxylic aciduria due to defective oxidation of medium-chain fatty acids.

M. Durán, D. Ketting, S. K. Wadman, 1985, The Journal of pediatrics.

Disorders of Intracellular Triglyceride and Phospholipid Metabolism

F. Lamari, G. Mitchell, J. Saudubray, 2016 .

Persistent hyperinsulinaemic hypoglycaemia.

J. Saudubray, P. de Lonlay, G. Touati, 2002, Seminars in neonatology : SN.

Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement

M. Durán, D. Rabier, J. Saudubray, 2000, Journal of Inherited Metabolic Disease.

Factitious Hyperinsulinism Leading to Pancreatectomy: Severe Forms of Munchausen Syndrome by Proxy

C. Sempoux, F. Brunelle, F. Mochel, 2005, Pediatrics.

Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency.

P. Bougnères, J. Saudubray, J. Girard, 1981, The Journal of pediatrics.

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1α deficiency

S. Seneca, G. Ponsot, W. Lissens, 1997, Human Genetics.

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

A. Imbard, C. Barnérias, J. Saudubray, 2011, Molecular genetics and metabolism.

Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology

À. García‐Cazorla, J. Saudubray, À. García-Cazorla, 2018, Journal of Inherited Metabolic Disease.

Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase.

C. Stanley, T. Smith, A. Ganguly, 2001, The Journal of clinical endocrinology and metabolism.

Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency.

A. Munnich, L. Hertz-Pannier, F. Brunelle, 2000, The Journal of pediatrics.

DELETION OF BLOOD MITOCHONDRIAL DNA IN PANCYTOPENIA

A. Fischer, F. Deist, A. Munnich, 1988, The Lancet.

Disorders of Phospholipid and Glycosphingolipid Synthesis

F. Lamari, F. Sedel, J. Saudubray, 2012 .

The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?

S. Packman, L. Bolund, P. Bross, 1997, Human molecular genetics.

Propionylcarnitine excretion is not affected by metronidazole administration to patients with disorders of propionate metabolism

J. Saudubray, R. Chalmers, R. Iles, 2005, European Journal of Pediatrics.

Substrate disposal in metabolic disease: a comparison between rates of in vivo propionate oxidation and urinary metabolite excretion in children with methylmalonic acidemia.

J. Leonard, J. Saudubray, J. Bresson, 1989, The Journal of pediatrics.

Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency

J. Saudubray, J. Bonnefont, M. Brivet, 2003, Human mutation.

Impact of inborn errors of metabolism on admission and mortality in a pediatric intensive care unit

J. Saudubray, G. Touati, P. Jouvet, 2007, European Journal of Pediatrics.

An extracorporeal hollow-fiber reactor for phenylketonuria using immobilized phenylalanine ammonia lyase.

A. Munnich, J. Frézal, J. Saudubray, 1986, Developmental pharmacology and therapeutics.

Spectrum of phenylketonuria mutations in Western Europe and North Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus

S. Lyonnet, J. Frézal, J. Saudubray, 1991, Human Genetics.

Clinical aspects of mitochondrial disorders

A. Munnich, P. Rustin, A. Rötig, 1992, Journal of Inherited Metabolic Disease.

Epilepsy and inborn errors of metabolism in adults: A diagnostic approach

M. Baulac, V. Navarro, F. Sedel, 2007, Journal of Inherited Metabolic Disease.

Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with ‘de novo’ duplication of dystrophin gene

A. Munnich, N. Romero, F. Leturcq, 2001, Neuromuscular Disorders.

Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation

C. Stoll, R. Wevers, J. Launay, 2000, Journal of Inherited Metabolic Disease.

Variation in plasma ketone bodies during a 24-hour fast in normal and in hypoglycemic children: relationship to age.

J. Saudubray, J. Limal, F. Coudé, 1981, The Journal of pediatrics.

Inborn Metabolic Diseases

C. Duve, J. Saudubray, J. Fernandes, 2000, Springer Berlin Heidelberg.

Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure

A. Munnich, P. Rustin, A. Rötig, 1994, European Journal of Pediatrics.

Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders.

M. Baumgartner, B. Poll-The, D. Rabier, 2004, Molecular genetics and metabolism.

Hypoglycaemia related to inherited metabolic diseases in adults

J. Saudubray, J. Wemeau, M. Vantyghem, 2012, Orphanet Journal of Rare Diseases.

In vivo propionate oxidation as a prognostic indicator in disorders of propionate metabolism

J. Leonard, J. Saudubray, J. Bresson, 1990, European Journal of Pediatrics.

Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia

A. Munnich, S. Lyonnet, D. Rabier, 1995, Prenatal diagnosis.

Pyruvate carboxylase deficiencies: Complementation studies between “French” and “American” phenotypes in cultured fibroblasts

B. Robinson, J. Saudubray, C. Marsac, 1985, Journal of Inherited Metabolic Disease.

Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency

A. Munnich, C. Griscelli, J. Frézal, 1981, Journal of Inherited Metabolic Disease.

Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis

A. Munnich, J. Frézal, J. Saudubray, 1981, European Journal of Pediatrics.

Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency

A. Munnich, C. Griscelli, J. Frézal, 2004, Journal of Clinical Immunology.

Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.

G. Herman, K. Gibson, J. Saudubray, 1996, Human molecular genetics.

Characterization of enzymatic deficiencies of branched chain amino-acid catabolism in human fibroblasts by genetic complementation.

G. Grimber, P. Parvy, J. Saudubray, 1983, Biochemical and biophysical research communications.

Hyperammonemia secondary to hereditary organic acidurias: a study of 29 cases.

P. Briand, J. Saudubray, F. Coudé, 1982, Advances in experimental medicine and biology.

FATTY-ACID-RESPONSIVE ALOPECIA IN MULTIPLE CARBOXYLASE DEFICIENCY

A. Munnich, J. Saurat, J. Frézal, 1980, The Lancet.

Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele

L. Bolund, P. Bross, T. Jensen, 1994, Journal of Inherited Metabolic Disease.

Genetic hypoglycaemia in infancy and childhood: Pathophysiology and diagnosis

D. Rabier, P. Kamoun, J. Saudubray, 2000, Journal of Inherited Metabolic Disease.

Loss of Imprinted Genes and Paternal SUR1 Mutations Lead to Focal Form of Congenital Hyperinsulinism

C. Junien, F. Brunelle, J. Saudubray, 2000, Hormone Research in Paediatrics.

Loss of imprinted genes and paternal SUR1 mutations lead to hyperinsulinism in focal adenomatous hyperplasia.

C. Junien, F. Brunelle, J. Saudubray, 1998, Annales d'endocrinologie.

Dominantly inherited hyperinsulinaemic hypoglycaemia

C. Stanley, C. Sempoux, F. Brunelle, 2005, Journal of Inherited Metabolic Disease.

The surgical management of congenital hyperinsulinemic hypoglycemia in infancy.

F. Brunelle, J. Saudubray, P. de Lonlay, 2004, Journal of pediatric surgery.

Facial appearance in persistent hyperinsulinemic hypoglycemia.

C. Junien, F. Brunelle, J. Saudubray, 2002, American journal of medical genetics.

Practical management of hyperinsulinism in infancy

F. Brunelle, K. Hussain, J. Saudubray, 2000, Archives of disease in childhood. Fetal and neonatal edition.

Persistent Hyperinsulinemic Hypoglycemia

J. Saudubray, P. Lonlay, 2000 .

HYPERINSULINISM Practical management of hyperinsulinism in infancy

F. Brunelle, K. Hussain, J. Saudubray, 2000 .

Clinical features of 52 neonates with hyperinsulinism.

C. Junien, C. Sempoux, F. Brunelle, 1999, The New England journal of medicine.

Liver transplantation in propionic acidaemia

Y. Révillon, D. Rabier, P. Kamoun, 1999, European Journal of Pediatrics.

Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia.

J. Saudubray, P. de Lonlay, G. Touati, 2001, Pediatrics.

The phenotype of adult versus pediatric patients with inborn errors of metabolism

F. Mochel, J. Saudubray, 2018, Journal of Inherited Metabolic Disease.

Short Communication: Defective Insulin Response to Intravenous Glucose in Congenital Lactic Acidosis

A. Munnich, J. Saudubray, F. Coudé, 1982, Pediatric Research.

The fasting test in paediatrics: Application to the diagnosis of pathological hypo- and hyperketotic states

A. Munnich, J. Saudubray, A. Lombès, 1990, European Journal of Pediatrics.

Dichloroacetate as treatment for congenital lactic acidosis.

J. Saudubray, F. Coudé, C. Marsac, 1978, The New England journal of medicine.

Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians

F. Lamari, F. Mochel, J. Saudubray, 2019, Journal of inherited metabolic disease.

Impaired mitochondrial pyruvate importation in a patient and a fetus at risk.

S. Lyonnet, À. García‐Cazorla, A. Legrand, 2003, Molecular genetics and metabolism.

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France.

A. Munnich, S. Lyonnet, J. Frézal, 1988, American journal of human genetics.

Biochemical and molecular investigations in respiratory chain deficiencies.

T. Bourgeron, A. Munnich, P. Rustin, 1994, Clinica chimica acta; international journal of clinical chemistry.

Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: a study of 31 patients.

P. Rustin, À. García‐Cazorla, D. Rabier, 2006, The Journal of pediatrics.

Clinical presentations and laboratory investigations in respiratory chain deficiency

A. Munnich, P. Rustin, A. Rötig, 1996, European Journal of Pediatrics.

Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?

A. Munnich, P. Rustin, G. Ponsot, 1998, Journal of Inherited Metabolic Disease.

Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency

A. Munnich, P. Rustin, A. Rötig, 2000 .

Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria

A. Munnich, P. Rustin, A. Rötig, 1995, Neuromuscular Disorders.

Ornithine carbamoyltransferase deficiency. A new variant with subnormal enzyme activity.

D. Rabier, P. Kamoun, J. Saudubray, 1989, Clinica chimica acta; international journal of clinical chemistry.

Pyruvate carboxylase deficiency: Metabolic characteristics and new neurological aspects

À. García‐Cazorla, D. Rabier, B. Chadefaux-Vekemans, 2006, Annals of neurology.

Therapeutic use of carbamylglutamate in the case of carbamoyl-phosphate synthetase deficiency

D. Rabier, J. Saudubray, F. Poggi-Travert, 1996, Journal of Inherited Metabolic Disease.

Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents

D. Millington, C. Roe, A. Legrand, 1996, Journal of Inherited Metabolic Disease.

[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene].

A. Munnich, S. Lyonnet, J. Saudubray, 1992, Archives francaises de pediatrie.

Hyperinsulinism and Hyperammonemia Syndrome: Report of Twelve Unrelated Patients

C. Stanley, D. Rabier, P. Kamoun, 2001, Pediatric Research.

Clinical approach to inherited peroxisomal disorders: A series of 27 patients

M. Baumgartner, B. Poll-The, D. Rabier, 1998, Annals of neurology.

The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma.

C. Junien, C. Sempoux, K. Dahan, 2003, Diabetes.

Pancreatic B-cell proliferation in persistent hyperinsulinemic hypoglycemia of infancy: an immunohistochemical study of 18 cases.

C. Sempoux, D. Dubois, J. Saudubray, 1998, Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc.

Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach

J. Saudubray, T. Attié-Bitach, J. Bonnefont, 2003, Prenatal diagnosis.

Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.

F. Taroni, J. Saudubray, J. Bonnefont, 1996, American journal of human genetics.

Brief report: renal tubular acidosis in carnitine palmitoyltransferase type 1 deficiency.

S. Cederbaum, J. Saudubray, J. Edmond, 1992, The New England journal of medicine.

Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities

S. Donato, J. Saudubray, M. Rimoldi, 1988, Pediatric Research.

Clinical approach to inherited metabolic disorders in neonates: an overview.

J. Saudubray, P. de Lonlay, G. Touati, 2002, Seminars in neonatology : SN.

Positron-Emission Tomography and Cerebral Metabolism

R. Naquet, D. Comar, É. Zarifian, 1980 .

Clinical presentation of mitochondrial disorders in childhood

T. Bourgeron, A. Munnich, P. Rustin, 1996, Journal of Inherited Metabolic Disease.

Liver transplantation in mitochondrial respiratory chain disorders

R. Sokol, J. Saudubray, E. Sokal, 1999, European Journal of Pediatrics.

Mitochondrial respiratory chain defect: a new etiology for neonatal cholestasis and early liver insufficiency.

A. Munnich, P. Rustin, J. Saudubray, 1995, Journal of hepatology.

Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy.

A. Munnich, A. Rotig, M. Tardieu, 1991, American journal of human genetics.

Normal muscle CPT1 and CPT2 activities in hepatic presentation patients with CPT1 deficiency in fibroblasts Tissue specific isoforms of CPT1?

I. Tein, J. Saudubray, J. Bonnefont, 1989, Journal of the Neurological Sciences.

CONGENITAL LACTIC ACIDOSIS, α‐KETOGLUTARIC ACIDURIA AND VARIANT FORM OF MAPLE SYRUP URINE DISEASE DUE TO A SINGLE ENZYME DEFECT: DIHYDROLIPOYL DEHYDROGENASE DEFICIENCY

A. Munnich, J. Frézal, F. Rocchiccioli, 1982, Acta paediatrica Scandinavica.

Liver transplantation in maple syrup urine disease

J. Saudubray, U. Wendel, P. Schadewaldt, 1999, European Journal of Pediatrics.

Massive subdural haematomas in Menkes disease mimicking shaken baby syndrome

L. Hertz-Pannier, F. Brunelle, J. Saudubray, 2002, Child's Nervous System.

de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency.

B. Poll-The, P. Niaudet, J. Saudubray, 1988, The Journal of pediatrics.

[Protocol of metabolic investigations in hereditary metabolic diseases].

D. Rabier, P. Kamoun, J. Saudubray, 1994, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update.

A. Munnich, J. Frézal, J. Saudubray, 1984, Journal of inherited metabolic disease.

Biotin‐Responsive Infantile Encephalopathy: EEG‐Polygraphic Study of a Case

J. Saudubray, A. Burlina, V. Colamaria, 1989, Epilepsia.

Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.

M. Vidailhet, A. Afenjar, J. Saudubray, 2008, Brain : a journal of neurology.

Peroxisomal very long-chain fatty acid beta-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders.

R. Wanders, R. Schutgens, B. Poll-The, 1987, Clinica chimica acta; international journal of clinical chemistry.

Remethylation defects: guidelines for clinical diagnosis and treatment

J. Saudubray, J. Zittoun, H. Ogier de Baulny, 1998, European Journal of Pediatrics.

Inborn Metabolic Diseases: Diagnosis and Treatment

J. Saudubray, J. Fernandes, Jean-Marie Saudubray, 1995 .

DEFECTIVE BIOTIN ABSORPTION IN MULTIPLE CARBOXYLASE DEFICIENCY

A. Munnich, J. Frézal, J. Saudubray, 1981, The Lancet.

Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency

C. Roe, J. Saudubray, P. de Lonlay, 2000, European Journal of Pediatrics.

Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency.

E. Holme, O. Elpeleg, J. Saudubray, 1993, The Journal of pediatrics.

Approach to the patient with a fatty acid oxidation disorder.

A. Munnich, D. Rabier, J. Saudubray, 1992, Progress in clinical and biological research.

Clinical diagnosis of long-chain acyl-coenzyme A-dehydrogenase deficiency: use of stress and fat-loading tests.

S. di Donato, J. Saudubray, B. Garavaglia, 1991, The Journal of pediatrics.

The French and North American phenotypes of pyruvate carboxylase deficiency, correlation with biotin containing protein by 3H-biotin incorporation, 35S-streptavidin labeling, and Northern blotting with a cloned cDNA probe.

B. Robinson, J. Saudubray, J. Oei, 1987, American journal of human genetics.

Branched-chain organic acidurias.

J. Saudubray, H. Ogier de Baulny, H. D. Baulny, 2002, Seminars in neonatology : SN.

Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency.

C. Stanley, A. Ganguly, B. Y. Hsu, 2001, Molecular genetics and metabolism.

Nasogastric drip feeding as the only treatment of neonatal maple syrup urine disease.

D. Rabier, J. Saudubray, R. Parini, 1993, Pediatrics.

Biotin dependent carboxylase activities in normal human and multicarboxylase deficient patient fibroblasts: relationship to the biotin content of the culture medium.

A. Munnich, J. Saudubray, F. Coudé, 1983, Clinica chimica acta; international journal of clinical chemistry.

Search for the biochemical basis of biotin dependent multiple carboxylase deficiencies: determination of biotin activation in cultured fibroblasts.

A. Munnich, J. Saudubray, C. Marsac, 1982, Clinica chimica acta; international journal of clinical chemistry.

Hudson memorial lecture

J. Frézal, J. Saudubray, F. Coudé, 1984, Journal of Inherited Metabolic Disease.

SECTION I: CLINICAL ASPECTS: MANAGEMENT AND OUTCOME

J., A. Munnich, J. Frézal, 2009 .

A defect in l-isoleucine metabolism associated with α-methyl-β-hydroxybutyric and α-methylacetoacetic aciduria: Quantitative in vivo and in vitro studies

J. Saudubray, G. Draffan, D. Gompertz, 1974 .

Rapid Diagnosis of Long Chain and Medium Chain Fatty Acid Oxidation Disorders Using Lymphocytes

A. Legrand, J. Saudubray, A. Slama, 1995, Annals of clinical biochemistry.

Oxidation of Fatty Acids in Cultured Fibroblasts: a Model System for the Detection and Study of Defects in Oxidation

K. Gibson, W. Nyhan, J. Saudubray, 1982, Pediatric Research.

Carnitine palmitoyltransferase deficiencies.

J. Saudubray, J. Bonnefont, J M Saudubray, 1999, Molecular genetics and metabolism.

MINIREVIEW Carnitine Palmitoyltransferase Deficiencies

J. Saudubray, J. Bonnefont, C. Prip-Buus, 1999 .

Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.

A. Munnich, R. Wanders, D. Rabier, 1992, Biochemical and biophysical research communications.

Congenital anomalies in glutaric aciduria type 2.

M. Gubler, J. Frézal, J. Saudubray, 1984, The Journal of pediatrics.

Carnitine-acylcarnitine translocase deficiency

J. Saudubray, 2004 .

Incidence of Reye's syndrome in France: a hospital-based survey.

J. Saudubray, P. Barbier, J. Laugier, 2001, Journal of clinical epidemiology.

Investigations on an animal model for a tentative explanation of increased urinary ethylmalonic acid in patients with glutaric aciduria type II treated with riboflavin

J. Harpey, J. Saudubray, M. Coudé, 1988 .

3-methylcrotonyl-CoA carboxylase deficiency

J. Saudubray, Doctor Matthias Baumgartner, 2020 .

[Multiple biotin-dependent carboxylase deficiencies (author's transl)].

A. Munnich, J. Frézal, J. Saudubray, 1981, Archives francaises de pediatrie.

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

F. Ledeist, P. Rustin, A. Rötig, 1990, The Journal of clinical investigation.

PRENATAL DIAGNOSIS OF DYSMORPHIC NEONATAL-LETHAL TYPE II GLUTARICACIDURIA

F. Rocchiccioli, J. Saudubray, R. Chalmers, 1984, The Lancet.

Infantile ketoacidosis associated with decreased activity of succinyl-CoA: 3-ketoacid CoA-transferase

J. Saudubray, A. Lombès, B. Middleton, 1987, Journal of Inherited Metabolic Disease.

The prenatal diagnosis of glutaric aciduria type II, using quantitative GC-MS

F. Rocchiccioli, J. Saudubray, R. Chalmers, 1985, Journal of Inherited Metabolic Disease.

Neonatal glutaric aciduria type II: An X-linked recessive inherited disorder

J. Frézal, J. Saudubray, F. Coudé, 2004, Human Genetics.

ANTENATAL DIAGNOSIS OF GLUTARICACIDURIA TYPE II

F. Rocchiccioli, J. Saudubray, J. Boué, 1983, The Lancet.

Peroxisomal Disorders : A Review

B. Poll-The, J. Smeitink, L. Dorland, 2004 .

A new case of methylmalonic aciduria with unexplained negative urinary methylmalonic colorimetric test

P. Divry, J. Saudubray, A. Lombès, 1986, Journal of Inherited Metabolic Disease.

Neonatal congential lactic acidosis with pyruvte carboxylase deficiency in two siblings.

J. Saudubray, C. Marsac, J. Leroux, 1976 .

NEONATAL CONGENITAL LACTIC ACIDOSIS WITH PYRUVATE CARBOXYLASE DEFICIENCY IN TWO SIBLINGS

J. Saudubray, C. Marsac, C. Charpentier, 1976, Acta paediatrica Scandinavica.

HEREDITARY ORNITHINE TRANSCARBAMYLASE DEFICIENCY

J. Lejeune, J. Saudubray, J. Laugier, 1975, Acta paediatrica Scandinavica.

Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease.

A. Munnich, F. Rocchiccioli, J. Saudubray, 1986, Neuropediatrics.

An international classification of inherited metabolic disorders (ICIMD)

Robert W. Taylor, A. Ballabio, E. Bertini, 2020, Journal of inherited metabolic disease.

Hair and skin disorders as signs of mitochondrial disease.

C. Bodemer, A. Munnich, P. Rustin, 1999, Pediatrics.

Cutaneous manifestations of methylmalonic and propionic acidaemia: a description based on 38 cases

C. Bodemer, Y. Prost, J. Saudubray, 1994, The British journal of dermatology.

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis

O. Dulac, G. Ponsot, C. Barnérias, 2010, Developmental medicine and child neurology.

DEFICIENT LIVER BIOTINIDASE ACTIVITY IN MULTIPLE CARBOXYLASE DEFICIENCY

A. Munnich, J. Frézal, J. Saudubray, 1983, The Lancet.

Diet-responsive proconvertin (factor VII) deficiency in homocystinuria.

A. Munnich, J. Frézal, P. Parvy, 1983, The Journal of pediatrics.

Clinical approach to inherited metabolic diseases in the neonatal period: A 20-year survey

A. Munnich, J. Frézal, D. Rabier, 1989, Journal of Inherited Metabolic Disease.

Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiency.

A. Munnich, J. Saudubray, F. Coudé, 1981, Pediatrics.

Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture

J. Souberbielle, D. Rabier, J. Saudubray, 2006, Journal of Inherited Metabolic Disease.

Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency

A. Legrand, J. Saudubray, A. Slama, 1999, Journal of Inherited Metabolic Disease.

Clinical Approach to Inborn Errors of Metabolism in Paediatrics

J. Saudubray, 2012 .

Antenatal diagnosis of infantile Refsum's disease

B. Poll-The, A. Poulos, J. Saudubray, 1985, Clinical genetics.

Brain uptake of 11C-methionine in phenylketonuria

A. Todd-Pokropek, J. Delforge, D. Comar, 1981, European Journal of Pediatrics.

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

A. Munnich, P. Rustin, A. Rötig, 1993, The Journal of clinical investigation.

Inborn Errors of Thiamine Metabolism

J. Saudubray, 1990 .

Correlation between blood ammonia concentration and organic acid accumulation in isovaleric and propionic acidemia.

G. Grimber, P. Parvy, J. Saudubray, 1982, Pediatrics.

Homocystinuria due to cystathionine synthase deficiency.

J. Saudubray, Doctor Sufin Yap, J. Saudubray, 1965, Annals of internal medicine.

Infantile Refsum's disease: Biochemical findings suggesting multiple peroxisomal dysfunction

H. Moser, R. Wanders, R. Schutgens, 1986, Journal of Inherited Metabolic Disease.

The metabolism of phytanic acid and pristanic acid in man: A review

R. Wanders, R. Wanders, B. Poll-The, 1998, Journal of Inherited Metabolic Disease.

Infantile Refsum disease: an inherited peroxisomal disorder

R. Wanders, R. Schutgens, B. Poll-The, 1987, European Journal of Pediatrics.

Clinical approach to inherited peroxisomal disorders

B. Poll-The, J. Saudubray, F. Poggi-Travert, 1995, Journal of Inherited Metabolic Disease.

Human liver pathology in peroxisomal diseases: a review including novel data.

H. Mandel, J. Saudubray, F. Roels, 1993, Biochimie.

Hepatic peroxisomes are deficient in infantile refsum disease: a cytochemical study of 4 cases.

B. Poll-The, J. Saudubray, F. Roels, 1986, American journal of medical genetics.

Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy.

A. Munnich, H. Clevers, S. Lyonnet, 1994, The Journal of clinical investigation.

Peroxisomal disorders.

M. Baumgartner, J. Saudubray, 2002, Seminars in neonatology : SN.

The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview

Fanny Mochel, Foudil Lamari, F. Lamari, 2015, Journal of Inherited Metabolic Disease.

Metabolic pigmentary retinopathies: Diagnosis and therapeutic attempts

B. Poll-The, J. Saudubray, J. Dufier, 2005, European Journal of Pediatrics.

Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders

A. Poulos, J. Saudubray, O. Skjeldal, 2004, Human Genetics.

Long‐chain 3‐hydroxyacylCoA dehydrogenase deficiency: a new case presenting with liver dysfunction, cholestasis and fibrosis

R. Wanders, D. Rabier, C. Roe, 2002, Acta paediatrica.

Prenatal diagnosis and confirmation of Infantile Refsum's disease

R. Wanders, R. Schutgens, B. Poll-The, 1987, Journal of Inherited Metabolic Disease.

Impaired plasmalogen metabolism in infantile Refsum's disease

R. Wanders, R. Schutgens, B. Poll-The, 1986, European Journal of Pediatrics.

Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata.

R. Wanders, R. Schutgens, H. Heymans, 1986, The New England journal of medicine.

Bile acids in peroxisomal disorders

R. Wanders, B. Poll-The, J. Saudubray, 1987, European journal of clinical investigation.

Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffman disease

M. Baumgartner, R. Wanders, D. Rabier, 1998, Neurology.

Peroxisome mosaicism in the livers of peroxisomal deficiency patients

H. Mandel, R. Wanders, B. Poll-The, 1995, Hepatology.

Cell and tissue heterogeneity in peroxisomal patients

T. Hashimoto, R. Wanders, H. Mandel, 1995 .

Peroxisomal functions in classical Refsum's disease: Comparison with the infantile form of Refsum's disease

R. Wanders, H. Heymans, B. Poll-The, 1988, Journal of the Neurological Sciences.

Prenatal diagnosis of Zellweger syndrome and related disorders: Impaired degradation of phytanic acid

B. Poll-The, A. Poulos, E. Christensen, 1986, European Journal of Pediatrics.

A new type of chondrodysplasia punctata associated with peroxisomal dysfunction

R. Wanders, R. Schutgens, B. Poll-The, 1991, Journal of Inherited Metabolic Disease.

Biomarkers identified in inborn errors for lysine, arginine, and ornithine.

D. Rabier, J. Saudubray, 2007, The Journal of nutrition.

Kinetic Modeling of Plasma Leucine Levels during Continuous Venovenous Extracorporeal Removal Therapy in Neonates with Maple Syrup Urine Disease

D. Rabier, J. Saudubray, P. Jouvet, 2005, Pediatric Research.

A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis

P. Rustin, A. Legrand, J. Saudubray, 2003, Human Genetics.

[Hereditary metabolic diseases in adults].

J. Saudubray, P. de Lonlay, G. Touati, 1998, La Revue de medecine interne.

Urea cycle defects: Management and outcome

D. Rabier, J. Saudubray, G. Touati, 2005, Journal of Inherited Metabolic Disease.

Liver transplantation in urea cycle disorders

Y. Révillon, D. Rabier, P. Kamoun, 1999, European Journal of Pediatrics.

Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.

C. Junien, F. Brunelle, J. Saudubray, 1998, The Journal of clinical investigation.

BPDZ 154 activates adenosine 5'-triphosphate-sensitive potassium channels: in vitro studies using rodent insulin-secreting cells and islets isolated from patients with hyperinsulinism.

P. Clayton, K. Hussain, J. Saudubray, 2002, The Journal of clinical endocrinology and metabolism.

Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib

J. Saudubray, P. de Lonlay, G. Durand, 2002, Journal of medical genetics.

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

A. Munnich, E. Schaftingen, G. Matthijs, 2001, Journal of medical genetics.

Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose.

J. Saudubray, P. de Lonlay, M. Kretz, 1999, The Journal of pediatrics.

[A new inherited metabolic disease: delta1-pyrroline 5-carboxylate synthetase deficiency].

J. Saudubray, B. Aral, P. Kamoun, 1998, Bulletin de l'Academie nationale de medecine.

Pristanic acid does not accumulate in peroxisomal acyl-CoA oxidase deficiency: Evidence for a Distinct peroxisomal pristanyl-CoA oxidase

R. Wanders, B. Poll-The, J. Saudubray, 1991, Journal of Inherited Metabolic Disease.

A congenital anomaly of vitamin B12 metabolism: a study of three cases.

J. Doyon, J. Saudubray, P. Russo, 1992, Human pathology.

MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME

A. Munnich, A. Rötig, A. Rotig, 1989, The Lancet.

Inborn Errors of Metabolism Overview: Pathophysiology, Manifestations, Evaluation, and Management.

J. Saudubray, À. García-Cazorla, 2018, Pediatric clinics of North America.

X-linked transmission of structural gene mutations responsible for ornithine-transcarbamylase deficiencies.

J. Navarro, J. Saudubray, C. Polonovski, 1973, Lancet.

A Multisystem Mitochondrial Disorder in Infancy

A. Munnich, N. Romero, J. Saudubray, 1990 .

Peroxisome mosaics.

R. Wanders, H. Mandel, P. Krystkowiak, 2003, Advances in experimental medicine and biology.

An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders

J. Saudubray, A. Garcia-Cazorla, 2018, Dialogues in clinical neuroscience.

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

A. Durr, C. Depienne, A. Brice, 2015, Brain : a journal of neurology.

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase.

M. Baumgartner, S. Almashanu, C. Obie, 2000, Human molecular genetics.

[Hematologic manifestations of inborn errors of metabolism].

D. Rabier, J. Saudubray, P. de Lonlay, 2002, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Reference charts for respiratory chain activities in human tissues.

T. Bourgeron, A. Munnich, P. Rustin, 1994, Clinica chimica acta; international journal of clinical chemistry.

The use of metronidazole in management of methylmalonic and propionic acidaemias

S. Lyonnet, J. Leonard, J. Saudubray, 1990, European Journal of Pediatrics.

Assessment of the mitochondrial respiratory chain

T. Bourgeron, A. Munnich, P. Rustin, 1991, The Lancet.

Clinical approach to inherited metabolic disorders in neonates.

A. Munnich, J. Saudubray, J. Bonnefont, 1990, Biology of the neonate.

Glucose Metabolism in 105 Children and Adolescents After Pancreatectomy for Congenital Hyperinsulinism

F. Brunelle, G. Velho, J. Saudubray, 2012, Diabetes Care.

Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency

C. Stanley, D. Hale, J. Saudubray, 1992, Journal of Inherited Metabolic Disease.

Hyperketotic states due to inherited defects of ketolysis.

J. Saudubray, A. Lombès, C. Jakobs, 1987, Enzyme.

Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia

S. Cederbaum, W. Nyhan, J. Girard, 2002, Human Genetics.

Prenatal diagnosis of Sjögren‐Larsson syndrome using enzymatic methods

W. Rizzo, J. Schulman, S. Black, 1994, Prenatal diagnosis.

Mucopolysaccharidose de type III

J. Saudubray, Docteur Roseline Froissart, Docteur Irène Maire, 2005 .

Maple syrup urine disease: Two different forms within a single family

J. Frézal, J. Saudubray, O. Amédée-Manesme, 2004, Human Genetics.

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

E. Schaftingen, R. Wevers, B. Poll-The, 1997, Journal of Inherited Metabolic Disease.

Ion-exchange chromatography and clinical criteria in the screening of the aminoacidopathies.

D. Rabier, P. Parvy, P. Kamoun, 1988, Clinica chimica acta; international journal of clinical chemistry.

ANTENATAL DIAGNOSIS OF COMBINED XANTHINE AND SULPHITE OXIDASE DEFICIENCIES

S. K. Wadman, J. Johnson, J. Saudubray, 1983, The Lancet.

Deficiency of Carnitine Palmitoyltransferase I

W. Nyhan, J. Saudubray, J. Carroll, 1989, Journal of child neurology.

Familial hypermethioninemia partially responsive to dietary restriction.

J. Saudubray, C. Brunet, J. Pérignon, 1990, The Journal of pediatrics.

[Mid-term outcome of 2 cases with maple syrup urine disease: role of liver transplantation in the treatment].

Y. Révillon, D. Rabier, J. Saudubray, 1994, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Liver transplantation: new indications in metabolic disorders?

Y. Révillon, D. Rabier, J. Saudubray, 1994, Transplantation proceedings.

In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: Limited diagnostic use of 1-13C fatty acid breath test using bolus technique

B. Poll-The, J. Saudubray, J. Kneer, 1997, European Journal of Pediatrics.

Glycine/serine ratio and the prenatal diagnosis of non‐ketotic hyperglycinaemia

D. Rabier, P. Parvy, P. Kamoun, 1990, Prenatal diagnosis.

An overview of inborn errors of complex lipid biosynthesis and remodelling

Fanny Mochel, Foudil Lamari, F. Lamari, 2015, Journal of Inherited Metabolic Disease.

Potential for the prenatal diagnosis of hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.

D. Rabier, P. Kamoun, J. Saudubray, 1989, American journal of medical genetics.

[Value of peritoneal dialysis in the emergency treatment of metabolic diseases of constitutional origin revealed in the neonatal period].

J. Saudubray, M. Cloup, J. Fournet, 1971, Annales de medecine interne.

EEG findings as an aid to the diagnosis of neonatal non-ketotic hyperglycinaemia

J. Saudubray, F. Coudé, C. Charpentier, 1982, Journal of Inherited Metabolic Disease.

Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP)

J. Weissenbach, A. Elbaz, F. Lehmann-Horn, 1994, Human Genetics.

Hypokalemic Periodic Paralysis andtheDihydropyridine Receptor (CACNLIA3):Genotype/Phenotype Correlations forTwo Predominant Mutations andEvidence fortheAbsenceofa Founder Effect in16Caucasian Families

R. Ophoff, B. Echenne, G. Lenoir, 1995 .

Leukoencephalopathies associated with inborn errors of metabolism in adults

N. Baumann, F. Sedel, B. Fontaine, 2008, Journal of Inherited Metabolic Disease.

Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation

D. Rabier, J. Saudubray, G. Touati, 2005, Journal of Inherited Metabolic Disease.

Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes

L. Hertz-Pannier, F. Brunelle, P. Niaudet, 2006, Pediatric Radiology.

Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood.

A. Munnich, P. Rustin, A. Rötig, 1999, Neuropediatrics.

Glutaryl-Coenzyme A dehydrogenase deficiency

J. Saudubray, S. Kölker, 2003 .

Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.

M. Durán, S. K. Wadman, J. Saudubray, 1986, Pediatrics.

Aqueous humour, a possible material for postmortem methylmalonic acidaemia diagnosis

P. Kamoun, J. Saudubray, J. Bonnefont, 1989, Journal of Inherited Metabolic Disease.

Serum citrulline and rejection in small bowel transplantation: a preliminary report.

J. Thompson, P. Ruiz, O. Gómez-Marín, 2001, Transplantation.

Hyperinsulinism in children: Diagnostic value of pancreatic venous sampling correlated with clinical, pathological and surgical outcome in 25 cases

G. Sebag, F. Brunelle, J. Saudubray, 2005, Pediatric Radiology.

Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: A diagnostic approach

F. Sedel, B. Fontaine, J. Saudubray, 2007, Journal of Inherited Metabolic Disease.

Δ1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline

M. Baumgartner, D. Valle, D. Rabier, 2005, European Journal of Pediatrics.

Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide: a retrospective review of 77 cases and analysis of efficacy-predicting criteria

P. Czernichow, F. Brunelle, J. Saudubray, 1998, European Journal of Pediatrics.

Partial elective pancreatectomy is curative in focal form of permanent hyperinsulinemic hypoglycaemia in infancy: A report of 45 cases from 1983 to 2000.

F. Brunelle, J. Saudubray, J. Rahier, 2002, Journal of pediatric surgery.

[The traps of Guthrie's test].

J. Saudubray, C. Charpentier, 1976, Archives francaises de pediatrie.

Pancreatic arterial calcium stimulation in the diagnosis and localisation of persistent hyperinsulinemic hypoglycaemia of infancy

F. Brunelle, J. Saudubray, P. de Lonlay, 2001, Pediatric Radiology.

The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism.

C. Sempoux, N. Boddaert, F. Brunelle, 2006, The Journal of clinical endocrinology and metabolism.

Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases

C. Junien, C. Sempoux, F. Brunelle, 2001, European Journal of Pediatrics.

Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy

F. Sedel, B. Fontaine, J. Saudubray, 2008, Journal of Neurology, Neurosurgery, and Psychiatry.

Crigler-Najjar syndrome

J. Saudubray, P. Labrune, 2020, Definitions.

Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency

B. Echenne, J. Saudubray, P. Landrieu, 2003, European Journal of Pediatrics.

Definitive cure of hyperammonemia by liver transplantation in urea cycle defects: report of three cases.

Y. Révillon, D. Rabier, J. Saudubray, 1994, Transplantation Proceedings.

Improved method for the antenatal diagnosis of citrullinemia.

P. Kamoun, J. Saudubray, J. Boué, 1981, Clinica chimica acta; international journal of clinical chemistry.

Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6–C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?

M. Durán, P. Divry, J. Saudubray, 1988, Journal of Inherited Metabolic Disease.

Widespread multi-tissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.

A. Munnich, A. Rötig, J. Saudubray, 1990, The Journal of pediatrics.

[An electroencephalographic study of disorders of amino-acid metabolism during the first days of life (author's transl)].

J. Saudubray, P. Plouin, J. Mises, 1977, Revue d'electroencephalographie et de neurophysiologie clinique.

Defect in the X-lipoyl-containing component of the pyruvate dehydrogenase complex in a patient with neonatal lactic acidemia.

W. Lissens, S. Sanderson, J. Lindsay, 1996, Pediatrics.

Succinic semialdehyde dehydrogenase deficiency (Gamma-hydroxybutyric aciduria)

J. Jaeken, J. Saudubray, 2004 .

Evidence of carotid artery wall hypertrophy in homozygous homocystinuria.

A. Simon, J. Gariépy, J. Mégnien, 1998, Circulation.

First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl‐containing subunit of the human pyruvate dehydrogenase complex

F. Fouque, J. Saudubray, B. Aral, 1999, Prenatal diagnosis.

In Vivo Study of Phytanic Acid α-Oxidation in Classic Refsum's Disease and Chondrodysplasia Punctata

H. J. Brink, B. Poll-The, J. Saudubray, 1992, Pediatric Research.

Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.

A Vassault, A. Munnich, P. Rustin, 1992, The Journal of pediatrics.

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.

A. Munnich, D. Rabier, J. Saudubray, 2011, Molecular genetics and metabolism.

[Nesidioblastosis and persistent neonatal hyperinsulinism].

C. Sempoux, F. Brunelle, J. Saudubray, 1995, Journees annuelles de diabetologie de l'Hotel-Dieu.

Severe lactic acidosis and acute thiamin deficiency: A report of 11 neonates with unsupplemented total parenteral nutrition

L. Faivre, C. Thauvin-Robinet, J. Saudubray, 2004, Journal of Inherited Metabolic Disease.

[Painful disseminated fibromatosis (systemic hyalinosis): a new hereditary collagen dysplasia].

C. Griscelli, J. Saudubray, R. Girot, 1978, Archives francaises de pediatrie.

Inborn Metabolic Diseases

M. Baumgartner, J. Saudubray, J. Walter, 2016, Springer Berlin Heidelberg.

Creation Date : March 2001 Updates : November 2001 January 2004 Scientific

J. Saudubray, P. Labrune, 2004 .

Continuous venovenous haemodiafiltration in the acute phase of neonatal maple syrup urine disease

D. Rabier, J. Saudubray, P. Jouvet, 1997, Journal of Inherited Metabolic Disease.

Unusual presentation of GM2 gangliosidosis mimicking a brain stem tumor in a 3-year-old girl.

L. Hertz-Pannier, J. Saudubray, C. Caillaud, 2003, AJNR. American journal of neuroradiology.

Unusual Presentation of GM 2 Gangliosidosis Mimicking a Brain Stem Tumor in a 3-Year-Old Girl

L. Hertz-Pannier, J. Saudubray, C. Caillaud, 2003 .

Neonatal hypoglycaemia: aetiologies.

J. Saudubray, P. de Lonlay, G. Touati, 2004, Seminars in neonatology : SN.

[Heterogeneity of carnitine palmitoyltransferase deficiencies. Deficiency of CPT I in the hepatic form and CPT II in the muscular form].

J. Frézal, J. Saudubray, J. Bonnefont, 1985, Archives francaises de pediatrie.

Aberrant Splicing of Exon 6 in the Pyruvate Denydrogenase-Elα mRNA Linked to a Silent Mutation in a Large Family with Leigh's Encephalomyelopathy

D. Rodriguez, G. Ponsot, W. Lissens, 1994, Pediatric Research.

Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy.

A. Munnich, P. Rustin, A. Rötig, 1994, The Journal of pediatrics.

Letter: The presence of the homoanalogues of substrates of the urea cycle in the presence of argininosuccinate synthetase deficiency.

J. Saudubray, C. Charpentier, C. Polonovski, 1974, Pediatric research.

Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.

A. Munnich, A. Veerman, A. Rötig, 1991, Genomics.

[Prognosis of congenital methylmalonic aciduria. Correlations between tolerance to proteins, response to vitamin B12 and enzymatic defect (author's transl)].

J. Saudubray, F. Coudé, D. Gompertz, 1980, Archives francaises de pediatrie.

Transcobalamin II deficiency

J. Saudubray, 2003 .

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency.

S. Seneca, L. de Meirleir, G. Ponsot, 1997, Human genetics.

Hyperinsulinemic hypoglycemia in children.

C. Junien, C. Sempoux, F. Brunelle, 2004, Annales d'endocrinologie.

Breast feeding in IMD

C. Hendriksz, J. Saudubray, A. Macdonald, 2006, Journal of Inherited Metabolic Disease.

[Isovaleric acidemia. Study and treatment in 3 brothers].

J. Saudubray, C. Charpentier, J. Pousset, 1976, Archives francaises de pediatrie.

Reply: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.

G. Stevanin, F. Mochel, J. Saudubray, 2016, Brain : a journal of neurology.

Complex lipids

M. Baumgartner, R. Wanders, J. Saudubray, 2015, Journal of Inherited Metabolic Disease.

[Congenital hyperinsulinism in newborn and infant].

N. Boddaert, F. Brunelle, M. Ribeiro, 2005, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Ornithine carbamyl transferase: the effects of pH on the kinetics of a mutant human enzyme.

J. Saudubray, C. Polonovski, L. Cathelineau, 1972, Clinica chimica acta; international journal of clinical chemistry.

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome)

A. Munnich, P. Rustin, A. Rötig, 1993, Journal of Inherited Metabolic Disease.

Amino acid profile in pyruvate carboxylase deficiency: Comparison with some other metabolic disorders

J. Saudubray, F. Coudé, A. Lemonnier, 1982, Journal of Inherited Metabolic Disease.

Retrospective detection of transaldolase deficiency in amniotic fluid: implications for prenatal diagnosis

M. Gonzalès, J. Saudubray, E. Struys, 2008, Prenatal Diagnosis.

Serum citrulline as a marker of acute cellular rejection for intestinal transplantation.

J. Thompson, P. Ruiz, O. Gómez-Marín, 2002, Transplantation proceedings.

An Analysis of the Association between Serum Citrulline and Acute Rejection among 26 Recipients of Intestinal Transplant

J. Thompson, F. Huijing, D. Rabier, 2004, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease.

M. Gonzalès, J. Saudubray, P. de Lonlay, 2006, The Journal of pediatrics.

Clinical Approach to Inherited Metabolic Diseases

J. Saudubray, C. Charpentier, J. M. Saudubray, 2000 .

Recurrent episodes of bizarre behavior in a boy with ornithine transcarbamylase deficiency: diagnostic failure of protein loading and allopurinol challenge tests.

D. Rabier, P. Parvy, J. Saudubray, 1994, The Journal of pediatrics.

[Carbohydrate-deficient blood glycoprotein syndrome].

A. Munnich, J. Saudubray, V. Cormier-Daire, 2000, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Neonatal cholestasis: an uncommon presentation of hyperargininemia

L. Vilarinho, J. Saudubray, S. Vilarinho, 2010, Journal of Inherited Metabolic Disease.

Methylenetetrahydrofolate reductase deficiency: Prenatal diagnosis and family studies

J. Saudubray, J. Zittoun, J. Marquet, 1994, Prenatal diagnosis.

Arginine remains an essential amino acid after liver transplantation in urea cycle enzyme deficiencies

D. Rabier, P. Parvy, P. Kamoun, 1991, Journal of Inherited Metabolic Disease.

Letter to the Editor: Enzyme Replacement Therapy by Transplantation of HLA-Compatible Fibroblasts in Sanfilippo Syndrome: Another Trial

A. Munnich, J. Aicardi, J. Frézal, 1982, Pediatric Research.

[Inborn errors of metabolism in adults].

F. Sedel, J. Saudubray, 2009, Annales d'Endocrinologie.

Peroxisomal disorders: A review

L. Dorland, J. Saudubray, R. Berger, 1994 .

Partial or near‐total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: the pathologist's role

Jaubert, Brunelle, Rahier, 1998, Histopathology.

Maternal phenylketonuria Author : Doctor Véronique ABADIE 1 Creation Date : October 2001 Update : January 2004 Scientific

J. Saudubray, 2004 .

Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.

R. Ophoff, B. Echenne, A. Elbaz, 1995, American journal of human genetics.

[Primary central nervous system lymphomas].

James V. Leonard, A. L. Wong, I. Módy, 2010, Vnitrni lekarstvi.

Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency

A. Munnich, C. Bonaïti‐pellié, D. Rabier, 2004, Human Genetics.

A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy).

R. Wanders, R. Wanders, B. Poll-The, 1988, American journal of human genetics.

A probable sex difference in mutation rates in ornithine transcarbamylase deficiency

A. Munnich, C. Bonaïti‐pellié, J. Saudubray, 2004, Human Genetics.

Do criteria exist from urinary organic acids to distinguish β-oxidation defects?

D. Rabier, P. Parvy, P. Kamoun, 1995, Journal of Inherited Metabolic Disease.

[Failure to thrive and intestinal diseases in congenital disorders of glycosylation].

J. Cézard, M. Besnard, C. Faure, 2003, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

[Status of lysosomal diseases amongst metabolic diseases].

J. Saudubray, 2006, La Revue de medecine interne.

An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders

J. Saudubray, A. Garcia-Cazorla, 2018, Dialogues in Clinical Neuroscience.

Contribution of odd-chain fatty acid oxidation to propionate production in disorders of propionate metabolism.

A. Mariotti, J. Saudubray, G. Thompson, 1994, The American journal of clinical nutrition.

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

C. Barnérias, J. Saudubray, M. Miné, 2011, Molecular genetics and metabolism.

Association of TCF7L2 variation with single islet autoantibody expression in children

T. Bourgeron, A. Munnich, P. Rustin, 2002 .

CEREBELLAR ATAXIA

P. Rustin, A. Rotig, J. Saudubray, 2006 .

Complementation Analysis of Carnitine Palmitoyltransferase I and II Defects

A. Legrand, J. Saudubray, A. Slama, 1996, Pediatric Research.

In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: Limited diagnostic use of 1- 13 C fatty acid breath test

J. Saudubray, J. Kneer, C. Jakobs, 1997 .

The effect of D-carnitine on palmitate oxidation in cultured fibroblasts.

J. Saudubray, A. Pellet, F. Demaugre, 1984, Clinica chimica acta; international journal of clinical chemistry.

[Sulfite oxidase deficiency presenting as Leigh syndrome].

A. Munnich, D. Rabier, J. Saudubray, 1994, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Letters to the Editor

J. Saudubray, C. Charpentier, C. Polonovski, 1974, Pediatric Research.

Peroxisomal very long-chain fatty acid beta-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders.

R. Wanders, R. Schutgens, J. Saudubray, 1987, Clinica chimica acta; international journal of clinical chemistry.

Pathophysiological approach to carnitine palmitoyltransferase II deficiencies.

J. Saudubray, J. Bonnefont, M. Brivet, 1992, Progress in clinical and biological research.

[Primary liver cancer].

James V. Leonard, A. L. Wong, I. Módy, 1989, Cancer radiotherapie : journal de la Societe francaise de radiotherapie oncologique.