D. Rabier

发表

Validation of plasma branched chain amino acids as biomarkers in Huntington disease.

A. Durr, F. Mochel, Sandra Benaich, 2011, Archives of neurology.

[Amino acids and trisomy 21].

A. Mégarbané, D. Rabier, J. Lejeune, 1992, Annales de genetique.

[Variation of amino acids in relation to age in Down syndrome subjects].

D. Rabier, M. Peeters, C. Mircher, 1997, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

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

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

Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia

A. Munnich, P. Calvas, B. Gilbert-Dussardier, 1996, Human mutation.

Serum 2-hydroxyglutarate production in IDH1- and IDH2-mutated de novo acute myeloid leukemia: a study by the Acute Leukemia French Association group.

Claude Preudhomme, Robert Barouki, Serge Koscielny, 2014, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Early Energy Deficit in Huntington Disease: Identification of a Plasma Biomarker Traceable during Disease Progression

Alexandra Durr, Fanny Mochel, Anne Vassault, 2007, PloS one.

Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency.

U. Engelke, L. Kluijtmans, R. Wevers, 2010, Biochimica et biophysica acta.

Early amniocentesis and amniotic fluid organic acid levels in the prenatal diagnosis of organic acidemias.

D. Rabier, P. Kamoun, P. Kamoun, 1990, Clinica chimica acta; international journal of clinical chemistry.

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

A. Munnich, N. Boddaert, A. Rötig, 2010, Mitochondrion.

Metabolism of citrulline in man

D. Rabier, P. Kamoun, 1995, Amino Acids.

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.

Mevalonate Kinase Deficiency: A Survey of 50 Patients

P. Jégo, I. Touitou, L. Cuisset, 2011, Pediatrics.

Prenatal diagnosis of some metabolic diseases using early amniotic fluid samples: report of a 15 years, experience

D. Rabier, A. Chabli, B. Chadefaux-Vekemans, 2006, Prenatal diagnosis.

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.

Portosystemic shunts: An underdiagnosed but treatable cause of neurological and psychiatric disorders

D. Galanaud, G. Huberfeld, F. Sedel, 2012, Journal of the Neurological Sciences.

Free amino acids in amniotic fluid and the prenatal diagnosis of homocystinuria with methylmalonic aciduria.

D. Rabier, P. Parvy, P. Kamoun, 1995, Clinical chemistry.

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.

Secondary creatine deficiency in ornithine delta-aminotransferase deficiency.

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

Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder.

D. Rabier, M. Gérard, A. Bourillon, 2015, European journal of medical genetics.

Methylmalonic and propionic acidaemias: Management and outcome

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

The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.

K. Gibson, D. Rabier, E. Christensen, 1997, Pediatrics.

Metabolic intermediates in lactic acidosis: compounds, samples and interpretation

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

L-arginine metabolism in dog kidney and isolated nephron segments.

O. Levillain, D. Rabier, P. Gaudreau, 2008, Metabolism: clinical and experimental.

Liver transplantation in two cases of propionic acidaemia

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

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.

Ammonia metabolism in humans: production and removal

D. Rabier, 2015 .

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.

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.

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.

Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene

A. Munnich, D. Rabier, A. Pelet, 1991, Human Genetics.

Neutrophil-derived long-lived oxidants in cystic fibrosis sputum.

C. Delacourt, D. Rabier, B. Descamps-Latscha, 1995, American journal of respiratory and critical care medicine.

Allogeneic bone marrow transplantation in mevalonic aciduria.

A. Fischer, M. Cavazzana‐Calvo, L. Cuisset, 2007, The New England journal of medicine.

Clinical aspects of mitochondrial disorders

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

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.

Tolerance to starvation in children on long-term total parenteral nutrition.

D. Rabier, O. Goulet, C. Ricour, 1997, Clinical nutrition.

A scheme for the interpretation of primary and secondary disturbances of plasma and urinary amino acid profiles. A possible way to an expert system.

D. Rabier, P. Parvy, P. Kamoun, 1995, Clinica chimica acta; international journal of clinical chemistry.

Hepatic failure in disorders of oxidative phosphorylation with neonatal onset.

P. Rustin, D. Rabier, P. Parvy, 1991, The 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.

Genetic hypoglycaemia in infancy and childhood: Pathophysiology and diagnosis

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

Cardiomyopathies in propionic aciduria are reversible after liver transplantation.

D. Rabier, P. de Lonlay, G. Touati, 2010, The Journal of pediatrics.

Liver transplantation in propionic acidaemia

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

Acute glucagon treatment in rats fed various protein diets effect on n-acetyl glutamate concentration.

D. Rabier, F. Coudé, L. Cathelineau, 1982, Advances in experimental medicine and biology.

Successful Treatment of Severe Cardiomyopathy in Glycogen Storage Disease Type III With D,L-3-Hydroxybutyrate, Ketogenic and High-Protein Diet

D. Rabier, F. Petit, C. Ottolenghi, 2011, Pediatric Research.

Induction of urea cycle enzymes by glucagon and dexamethasone in monolayer cultures of adult rat hepatocytes.

R. C. Lin, D. Rabier, P. J. Snodgrass, 1982, The Journal of biological chemistry.

Intra- and interlaboratory quality control for assay of amino acids in biological fluids: 14 years of the French experience.

D. Rabier, P. Parvy, P. Kamoun, 1993, Clinical chemistry.

Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy

A. Munnich, M. Durán, N. Boddaert, 2010, Journal of Inherited Metabolic Disease.

Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B12

A. Munnich, A. Rötig, D. Rabier, 2009, Journal of Inherited Metabolic Disease.

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.

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

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

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.

Letter to the Editor: Lack of Mitochondrial Enzymes of the Urea Cycle in Human White Blood Cells

D. Rabier, P. Kamoun, L. Cathelineau, 1979, Pediatric Research.

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.

A mechanism for valproate-induced hyperammonemia.

G. Grimber, D. Rabier, P. Parvy, 1982, Advances in experimental medicine and biology.

Effects of organic acids on the synthesis of citrulline by intact rat liver mitochondria.

P. Briand, D. Rabier, P. Kamoun, 1986, Biochimie.

Impairment of citrulline synthesis during late pregnancy and lactation in rats.

P. Briand, D. Rabier, P. Kamoun, 1985, Biochimica et biophysica acta.

Role of N-acetylglutamate and acetyl-CoA in the inhibition of ureagenesis by isovaleric acid in isolated rat hepatocytes.

G. Grimber, D. Rabier, P. Parvy, 1983, Biochimica et biophysica acta.

Modified glutamine catabolism in macrophages of Ucp2 knock-out mice.

D. Rabier, Y. Emre, D. Ricquier, 2008, Biochimica et biophysica acta.

Response of nitric oxide pathway to L-arginine infusion at the altitude of 4,350 m.

J. Richalet, D. Rabier, M. Déchaux, 2001, The European respiratory journal.

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.

Stability of free amino acids in sulfosalicylic filtrates.

D. Rabier, P. Parvy, P. Kamoun, 1995, Clinical chemistry.

Developmental changes of citrullinogenesis, mitochondrial N-acetylglutamate content and N-acetylglutamate synthetase in fetal and neonatal rats.

G. Grimber, P. Briand, D. Rabier, 1983, Biochimie.

[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.

Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome.

N. Boddaert, P. Sonigo, F. Brunelle, 2006, AJNR. American journal of neuroradiology.

Gestational age‐related reference values for amniotic fluid organic acids

D. Rabier, B. Chadefaux-Vekemans, C. Ottolenghi, 2010, Prenatal diagnosis.

Clinical and biochemical heterogeneity associated with fumarase deficiency

A. Munnich, N. Boddaert, T. Frebourg, 2011, Human mutation.

Inhibition of ureagenesis by valproate in rat hepatocytes. Role of N-acetylglutamate and acetyl-CoA.

G. Grimber, D. Rabier, P. Parvy, 1983, The Biochemical journal.

Approach to the patient with a fatty acid oxidation disorder.

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

Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino-acid mixture

D. Rabier, A. Servais, C. Ottolenghi, 2013, Journal of Inherited Metabolic Disease.

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

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

Facial anomalies in D-2-hydroxyglutaric aciduria.

A. Munnich, S. Lyonnet, D. Rabier, 1999, American journal of medical genetics.

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.

A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report

B. Andresen, D. Rabier, N. Gregersen, 2010, Orphanet journal of rare diseases.

A new case of hyperoxaluria type II

L. Vilarinho, D. Rabier, P. Parvy, 1993, Journal of Inherited Metabolic Disease.

Source of error in the assay of urinary orotic acid.

D. Rabier, P. Kamoun, C. Deprun, 1987, Clinical chemistry.

Propionate and succinate effects on acetyl glutamate biosynthesis by rat liver mitochondria.

P. Briand, D. Rabier, P. Kamoun, 1979, Biochemical and biophysical research communications.

Hair and skin disorders as signs of mitochondrial disease.

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

[Cerebral edema with hyperammonemia in valpromide poisoning. Manifestation in an adult, of a partial deficit in type I carbamylphosphate synthetase].

D. Rabier, P. Kamoun, P. Bourrier, 1988, Presse medicale.

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.

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.

L-carnitine: a way to decrease cellular toxicity of ifosfamide?

J. Harpey, A. Sewell, D. Rabier, 1995, European Journal of Pediatrics.

Letter to the Editor: A Mechanism for Valproate-Induced Hyperammonemia

G. Grimber, D. Rabier, P. Parvy, 1981, Pediatric Research.

A new neonatal case ofN-acetylglutamate synthase deficiency treated by carbamylglutamate

D. Rabier, J. Colombo, N. Guffon, 1995, Journal of Inherited Metabolic Disease.

A false hyperglycinaemia

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

Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.

D. Rabier, Keiko Kobayashi, M. Merten, 2008, Journal of hepatology.

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.

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

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

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.

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

N. Boddaert, D. Rabier, I. Desguerre, 2013, Orphanet Journal of Rare Diseases.

VALPROATE-INDUCED INHIBITION OF UREA SYNTHESIS

D. Rabier, P. Kamoun, 1987, The Lancet.

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.

Improving the prenatal diagnosis of citrullinemia using citrulline/ornithine+arginine ratio in amniotic fluid

D. Rabier, P. Kamoun, A. Chabli, 2002, Prenatal diagnosis.

What’s new in metabolic and genetic hypoglycaemias: diagnosis and management

M. Polak, D. Rabier, J. Robert, 2008, European Journal of Pediatrics.

Long-term outcome in methylmalonic aciduria: a series of 30 French patients.

N. Boddaert, Philippe M. Campeau, D. Rabier, 2009, Molecular genetics and metabolism.

Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia.

D. Rabier, P. Parvy, P. Kamoun, 1994, The Journal of pediatrics.

Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions.

P. Bénit, P. Rustin, V. El Ghouzzi, 2005, Human molecular genetics.

Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.

A. Munnich, P. Rustin, A. Rötig, 1994, The Journal of clinical investigation.

Early neurological phenotype in 4 children with biallelic PRODH mutations

D. Campion, A. Afenjar, D. Rodriguez, 2007, Brain and Development.

Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria.

A. Munnich, C. Guyot, D. Rabier, 2008, Molecular genetics and metabolism.

Site specific screening for point mutations in ornithine transcarbamylase deficiency.

A. Munnich, P. Briand, D. Rabier, 1992, Journal of medical genetics.

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.

Effect of genetically caused excess of brain gamma-hydroxybutyric acid and GABA on sleep.

I. Arnulf, K. Gibson, D. Rabier, 2005, Sleep.

Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome.

D. Rabier, P. de Lonlay, A. Brassier, 2013, Molecular genetics and metabolism.

Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease.

R. Salomon, D. Rabier, Y. Aigrain, 2013, Molecular genetics and metabolism.

Management of West Syndrome in a Patient With Methylmalonic Aciduria

N. Boddaert, Philippe M. Campeau, O. Dulac, 2010, Journal of Child Neurology.

Radioisotopic assay of picomolar amounts of coenzyme A.

P. Briand, D. Rabier, P. Kamoun, 1983, Analytical biochemistry.

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.

D. Rabier, P. Parvy, P. Kamoun, 1988, Clinical chemistry.

GESTATIONAL AGE‐RELATED REFERENCE VALUES FOR AMNIOTIC FLUID AMINO ACIDS: A USEFUL TOOL FOR PRENATAL DIAGNOSIS OF AMINOACIDOPATHIES

J. Oury, D. Rabier, P. Parvy, 1996, Prenatal Diagnosis.

[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.

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

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

Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (γ‐hydroxybutyric aciduria)

A. Munnich, D. Rabier, A. Philippe, 2004 .

Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria).

A. Munnich, D. Rabier, P. de Lonlay, 2004, Developmental medicine and child neurology.

Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New Caledonia

K. Gibson, D. Rabier, C. Jakobs, 1997, Journal of Inherited Metabolic Disease.

Prenatal diagnosis of combined methylmalonic aciduria and homocystinuria (cobalamin CblC or CblD mutant)

S. Lyonnet, P. Divry, D. Rabier, 1994, Prenatal diagnosis.

Prenatal diagnosis of argininosuccinic aciduria by assay of argininosuccinate in amniotic fluid at the 12th week of gestation.

D. Rabier, P. Kamoun, J. Desgrès, 1990, American journal of medical genetics.

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

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

Pitfalls in the prenatal diagnosis of argininosuccinuria.

D. Rabier, P. Kamoun, B. Chadefaux, 1988, American journal of medical genetics.

Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.

D. Rabier, C. Roe, M. Brivet, 1998, Molecular genetics and metabolism.

Ornithine transcarbamylase deficiencies in human males. Kinetic and immunochemical classification.

P. Briand, D. Rabier, B. François, 1982, Biochimica et biophysica acta.

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.

Diagnostic Procedures: Functional Tests and Post-mortem Protocol

F. Mochel, D. Rabier, G. Touati, 2012 .

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

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

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.

Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic Acid decarboxylase deficiency.

A. Munnich, L. Christa, D. Bonneau, 2012, JIMD reports.

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

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

L-carnitine: a way to decrease cellular toxicity of ifosfamide?

J. Harpey, A. Sewell, D. Rabier, 2005, European Journal of Pediatrics.

Combined nutritional support and continuous extracorporeal removal therapy in the severe acute phase of maple syrup urine disease

D. Rabier, P. Jouvet, J. Desgrès, 2001, Intensive Care Medicine.

Syndrome de Smith-Lemli-Opitz

D. Rabier, C. Ottolenghi, P. Lonlay, 2013 .

D-2-Hydroxyglutaric aciduria: Further clinical delineation

M. Durán, M. Knaap, D. Rabier, 1999, Journal of Inherited Metabolic Disease.

Enzymatic and immunological demonstration of normal and defective succinic semialdehyde dehydrogenase activity in fetal brain, liver and kidney

K. Gibson, D. Rabier, C. Jakobs, 1993, Journal of Inherited Metabolic Disease.

Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4‐hydroxybutyric aciduria)

K. Gibson, D. Rabier, C. Jakobs, 1993, Prenatal diagnosis.

Pseudo-cystinuria-lysinuria in neonatal propionic acidemia.

D. Rabier, P. Parvy, P. Kamoun, 1988, Clinical chemistry.

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.

Abnormal α-aminoadipic acid excretion in a newborn with a defect in platelet aggregation and antenatal cerebral haemorrhage

C. Richelme, D. Rabier, M. Candito, 1995, Journal of Inherited Metabolic Disease.

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.

Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease

A. Durr, C. Jauffret, P. Carlier, 2010, European Journal of Human Genetics.

Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France

A. Munnich, D. Pessayre, B. Fromenty, 1996, Human Genetics.

Ornithine Transcarbamylase and Disaccharidase Activities in Damaged Intestinal Mucosa of Children—Diagnosis of Hereditary Ornithine Transcarbamylase Deficiency in Mucosa

P. Briand, D. Rabier, J. Navarro, 1985, Journal of pediatric gastroenterology and nutrition.

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.

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.

A new case of argininaemia without spastic diplegia in a Portuguese male

L. Vilarinho, D. Rabier, P. Parvy, 1990, Journal of Inherited Metabolic Disease.

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.

[Intrasplenic transplantation of hepatocytes in spf-ash mice with congenital ornithine transcarbamylase deficiency].

Y. Révillon, N. Brousse, D. Rabier, 1993, Chirurgie; memoires de l'Academie de chirurgie.

Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase

D. Rabier, F. Rocchiccioli, P. Kamoun, 1988, Prenatal diagnosis.

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

A. Munnich, C. Bonaïti‐pellié, D. Rabier, 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.

Serum 2-hydroxyglutarate production in IDH1- and IDH2-mutated de novo acute myeloid leukemia: a study by the Acute Leukemia French Association group.

H. Dombret, E. Solary, O. Bernard, 2014, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Hypocarnitinaemia in Menkes disease

M. Mayer, D. Rabier, P. Kamoun, 1989, European Journal of Pediatrics.

[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.

A new pitfall in plasma amino acid analysis.

D. Rabier, P. Parvy, P. Kamoun, 1989, Clinical chemistry.