C. Vianey-Saban

发表

A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency.

G. Briand, J. Vamecq, D. Dobbelaere, 2012, JIMD reports.

Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts.

C. Vianey‐Saban, M. Zabot, C. Largillière, 1993, Biochimica et biophysica acta.

Antenatal manifestations of inborn errors of metabolism: biological diagnosis

D. Cheillan, R. Froissart, C. Vianey‐Saban, 2016, 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.

Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients.

P. Divry, C. Roe, C. Vianey‐Saban, 1998, Clinica chimica acta; international journal of clinical chemistry.

Metabolic studies in a patient with severe carnitine palmitoyltransferase type II deficiency.

P. Divry, G. Briand, C. Vianey‐Saban, 1998, Clinica chimica acta; international journal of clinical chemistry.

Plasma free fatty acids in mitochondrial fatty acid oxidation defects.

G. Jiménez-Sánchez, A. Ribes, P. Divry, 1997, Clinica chimica acta; international journal of clinical chemistry.

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings

Y. Gillerot, R. Wanders, J. J. Martin, 2000, European Journal of Pediatrics.

Oxidation of unsaturated fatty acids by human fibroblasts with very-long-chain acyl-CoA dehydrogenase deficiency: aspects of substrate specificity and correlation with clinical phenotype.

C. Roe, C. Vianey‐Saban, D. Roe, 2001, Clinica chimica acta; international journal of clinical chemistry.

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients

P. Sachs, C. Vianey‐Saban, H. Abdoul, 2013, Journal of Inherited Metabolic Disease.

Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts.

C. Roe, E. Struys, C. Vianey‐Saban, 2006, Molecular genetics and metabolism.

Disorders of Riboflavin Metabolism

A. Bosch, C. Acquaviva, C. Vianey-Saban, 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.

Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.

A. Laquérriere, G. Bassez, J. Pouget, 2016, Revue neurologique.

Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.

R. Barouki, B. Chadefaux-Vekemans, P. de Lonlay, 2015, JIMD reports.

Stroke, hemiparesis and deficient mitochondrial β-oxidation

L. Vallée, P. Divry, M. Lhermitte, 1994, European Journal of Pediatrics.

Very long chain acyl-coenzyme A dehydrogenase deficiency in two siblings: evolution after prenatal diagnosis and prompt management.

T. Sluysmans, D. Tuerlinckx, M. Brivet, 1997, The Journal of pediatrics.

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.

Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

L. D. Schroeder, E. R. Baumgartner, L. Bolund, 1999, American journal of human genetics.

[Prenatal symptoms and diagnosis of inherited metabolic diseases].

N. Boddaert, P. Sonigo, B. Chadefaux-Vekemans, 2012, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

DNA‐based prenatal diagnosis for severe and variant forms of multiple acyl‐CoA dehydrogenation deficiency

H. Mandel, B. Andresen, N. Gregersen, 2005, Prenatal diagnosis.

DNA-based prenatal diagnosis for very-long- chain acyl-CoA dehydrogenase deficiency

L. D. Schroeder, L. Bolund, R. Wanders, 1999, Journal of Inherited Metabolic Disease.

PRENATAL DIAGNOSIS OF MITOCHONDRIAL FATTY ACID OXIDATION DEFECTS

M. Bialer, C. Roe, R. Wappner, 1996, Prenatal diagnosis.

Ion-pairing reversed-phase liquid chromatography/electrospray ionization mass spectrometric analysis of 76 underivatized amino acids of biological interest: a new tool for the diagnosis of inherited disorders of amino acid metabolism.

J. Steghens, K. Petritis, C. Elfakir, 2005, Rapid communications in mass spectrometry : RCM.

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

T. Meitinger, T. Strom, H. Prokisch, 2016, American journal of human genetics.

Glucose-6-phosphatase deficiency

A. Hubert-Buron, R. Froissart, F. Petit, 2011, Orphanet journal of rare diseases.

Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis

D. Galanaud, J. Luauté, F. Cotton, 2020, Orphanet Journal of Rare Diseases.

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation

B. Hartmann, P. Huppke, C. Pérez-Cerdá, 2017, Clinical genetics.

Neonatal hyperammonemia: the N-carbamoyl-L-glutamic acid test.

J. Häberle, D. Cheillan, B. Wermuth, 2005, The Journal of pediatrics.

Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.

R. Froissart, C. Caillaud, M. Pettazzoni, 2017, Rapid communications in mass spectrometry : RCM.

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

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

Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?

N. Guffon, Virginie Levrat, Isabelle Forest, 2008, Orphanet journal of rare diseases.

Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies.

J. Häberle, B. Wermuth, C. Vianey‐Saban, 2005, Biochimica et biophysica acta.

Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders

P. Latour, D. Cheillan, R. Froissart, 2018, Journal of Inherited Metabolic Disease.

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease

P. Latour, D. Cheillan, R. Froissart, 2017, PloS one.

Subacute myopathy in a mature patient due to multiple acyl‐coenzyme a dehydrogenase deficiency

C. Vianey‐Saban, P. Kaminsky, O. Rigal, 2011, Muscle & nerve.

Electron transfer flavoprotein deficiency: functional and molecular aspects.

R. Froissart, C. Vianey‐Saban, M. Schiff, 2006, Molecular genetics and metabolism.

Disorders of muscle lipid metabolism: Diagnostic and therapeutic challenges

P. Laforêt, C. Vianey‐Saban, C. Vianey-Saban, 2010, Neuromuscular Disorders.

Equine biochemical multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of rhabdomyolysis.

R. Wanders, I. Wijnberg, J. H. van der Kolk, 2007, Molecular genetics and metabolism.

Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.

L. de Meirleir, P. Divry, G. Besley, 2002, American journal of medical genetics.

ESI-MS/MS analysis of underivatised amino acids: a new tool for the diagnosis of inherited disorders of amino acid metabolism. Fragmentation study of 79 molecules of biological interest in positive and negative ionisation mode.

J. Steghens, K. Petritis, C. Elfakir, 2003, Rapid communications in mass spectrometry : RCM.

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis

A. Offiah, R. Bouvier, G. Andria, 2015, Pediatric Radiology.

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance.

P. Rustin, N. Romero, Malgorzata Rak, 2016, The New England journal of medicine.

Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder

M. Rossi, L. Guibaud, M. Cordier, 2016, Journal of Inherited Metabolic Disease.

Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.

A. Green, M. Weedon, M. O'sullivan, 2013, American journal of human genetics.

Acylcarnitine removal in a patient with acyl-CoA beta-oxidation deficiency disorder: effect of L-carnitine therapy and starvation.

L. Vallée, P. Divry, G. Briand, 1996, Clinica chimica acta; international journal of clinical chemistry.

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

L. Bolund, P. Bross, B. Andresen, 2008, Human Genetics.

Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene

J. Vockley, A. Sewell, F. Zintl, 2003, Journal of Inherited Metabolic Disease.

Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis

A. Aguzzi, S. Krähenbühl, C. Roe, 1997, Journal of Inherited Metabolic Disease.

Relationship between serum carnitine, acylcarnitines, and renal function in patients with chronic renal disease.

C. Hoppel, D. Fouque, J. Kopple, 2006, Journal of renal nutrition : the official journal of the Council on Renal Nutrition of the National Kidney Foundation.

Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry

P. Divry, C. Vianey‐Saban, N. Guffon, 1997, Journal of Inherited Metabolic Disease.

Monitoring of asparagine depletion and anti-l-asparaginase antibodies in adult acute lymphoblastic leukemia treated in the pediatric-inspired GRAALL-2005 trial

H. Dombret, X. Thomas, N. Ifrah, 2018, Blood Cancer Journal.

Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene.

K. Kristiansen, P. Bross, B. Andresen, 1996, Human molecular genetics.

Ethylmalonic Encephalopathy: Clinical and Biochemical Observations

D. Zafeiriou, N. Gregersen, A. Sewell, 2007, Neuropediatrics.

Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II

S. Laradi, R. Froissart, C. Vianey‐Saban, 2011, Diagnostic pathology.

Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings

M. Massoud, C. Vianey‐Saban, M. Rossi, 2016, Journal of Inherited Metabolic Disease.

Adult presentation of MCAD deficiency revealed by coma and severe arrythmias.

P. Bollaert, C. Vianey‐Saban, N. Sadoul, 2003, Intensive Care Medicine.

Oleate dose-dependently regulates palmitate metabolism and insulin signaling in C2C12 myotubes.

B. Morio, F. Capel, J. Bertrand-Michel, 2016, Biochimica et biophysica acta.

Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts.

S. Ruet, C. Acquaviva, C. Vianey-Saban, 2016, JIMD reports.

Purification of electron transfer flavoprotein from pig liver mitochondria and its application to the diagnosis of deficiencies of acyl-CoA dehydrogenases in human fibroblasts.

P. Divry, C. Vianey‐Saban, M. Mathieu, 1992, Clinica chimica acta; international journal of clinical chemistry.

[Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management].

P. de Lonlay, D. Cheillan, G. Briand, 2012, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients

S. Laradi, R. Froissart, A. Miled, 2011, Diagnostic Pathology.

Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms

S. Laradi, R. Froissart, C. Vianey‐Saban, 2011, Diagnostic pathology.

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

G. Matthijs, C. Pérez-Cerdá, M. Ugarte, 2016, Genetics in Medicine.

A novel missense mutation in a neonate with nonketotic hyperglycinemia.

S. Meyer, M. Shamdeen, C. Acquaviva, 2010, Pediatric neurology.

Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM

A. Burlina, C. Vianey‐Saban, V. Kožich, 2008, Journal of Inherited Metabolic Disease.

A new reversed-phase liquid chromatographic/tandem mass spectrometric method for analysis of underivatised amino acids: evaluation for the diagnosis and the management of inherited disorders of amino acid metabolism.

C. Elfakir, D. Bouchu, M Piraud, 2005, Rapid communications in mass spectrometry : RCM.

Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.

R. Jaussaud, W. Wuyts, M. Schiff, 2018, Molecular genetics and metabolism.

Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants.

N. Gregersen, P. de Lonlay, M. Minot-Myhié, 2017, Clinica chimica acta; international journal of clinical chemistry.

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data

P. Sachs, H. Abdoul, J. Baruteau, 2014, Journal of Inherited Metabolic Disease.

Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency

C. Angelini, C. Bruno, A. Anichini, 2011, Neurological research.

Uncoupling the Systemic Circulation and the Ex Vivo Circuit During Experimental Isolated Liver Perfusion

J. Viale, B. Delafosse, J. Goudable, 2006, ASAIO journal.

Pharmacological inhibition of carnitine palmitoyltransferase 1 restores mitochondrial oxidative phosphorylation in human trifunctional protein deficient fibroblasts.

C. Vianey‐Saban, F. Labarthe, J. Benoist, 2017, Biochimica et biophysica acta. Molecular basis of disease.

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.

F. Tort, A. Ribes, R. Artuch, 2014, Human molecular genetics.

High frequency of creatine deficiency syndromes in patients with unexplained mental retardation

V. des Portes, D. Cheillan, C. Jakobs, 2006, Neurology.

Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients.

L. Christa, C. Corne, M. Milh, 2016, JIMD Reports.

Adult-onset renal thrombotic microangiopathy and pulmonary arterial hypertension in cobalamin C deficiency

J. Benoist, S. Bekri, D. Guerrot, 2015, The Lancet.

Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency

C. Vianey‐Saban, F. Labarthe, J. Benoist, 2006, European Journal of Pediatrics.

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism

V. Portes, M. Till, G. Lesca, 2019, Molecular Genetics and Metabolism Reports.

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

R. Delorme, F. Rivier, A. Afenjar, 2012, Orphanet Journal of Rare Diseases.

Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency

B. Andresen, P. Laforêt, B. Eymard, 2009, Neuromuscular Disorders.

Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation

J. Gargus, C. Roe, M. Bocian, 2003, Journal of Inherited Metabolic Disease.

Clinical outcomes in a series of 18 patients with long chain fatty acids oxidation disorders treated with triheptanoin for a median duration of 22 months.

F. Mochel, P. de Lonlay, M. Schiff, 2021, Molecular genetics and metabolism.

A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency

B. Andresen, P. Divry, N. Gregersen, 2001, Archives of disease in childhood.

The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases

C. Vianey‐Saban, D. Mathis, G. Ruijter, 2022, Journal of inherited metabolic disease.

Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.

N. Romero, P. Laforêt, A. Béhin, 2018, Revue neurologique.

A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation.

M. Rolland, M. Schiff, N. Guffon, 2006, Molecular genetics and metabolism.

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.

Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2006, Journal of Inherited Metabolic Disease.

An overview of L‐2‐hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype–phenotype study

D. Zafeiriou, J. Celli, J. D. den Dunnen, 2010, Human mutation.

Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.

A. Drousiotou, A. Ribes, B. Merinero, 2016, JIMD reports.

Enhanced interpretation of newborn screening results without analyte cutoff values

Vagelis Papakonstantinou, Giuseppe Giordano, Yin-Hsiu Chien, 2012, Genetics in Medicine.

Development and implementation of a novel assay for l-2-hydroxyglutarate dehydrogenase (l-2-HGDH) in cell lysates: l-2-HGDH deficiency in 15 patients with l-2-hydroxyglutaric aciduria

M. Knaap, K. Gibson, S. Korman, 2009, Journal of Inherited Metabolic Disease.

Method for determining if a corpse has been frozen: measuring the activity of short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD).

L. Fanton, D. Malicier, A. Miras, 2001, Forensic Science International.

Homicide followed by freezing and burning: usefulness of measuring SCHAD (short-chain 3-hydroxyacyl-CoA dehydrogenase) activity.

L. Fanton, D. Malicier, C. Vianey-Saban, 2006, Journal of clinical forensic medicine.

Amino acid profiling for the diagnosis of inborn errors of metabolism.

D. Cheillan, C. Vianey‐Saban, S. Ruet, 2011, Methods in molecular biology.

Creatine and guanidinoacetate reference values in a French population.

R. Delorme, F. Rivier, A. Afenjar, 2013, Molecular genetics and metabolism.

Determination of guanidinoacetate and creatine in urine and plasma by liquid chromatography-tandem mass spectrometry.

D. Cheillan, C. Vianey‐Saban, C. Jakobs, 2004, Clinical chemistry.

Rate-Dependent Distal Renal Tubular Acidosis and Carnitine Palmitoyltransferase I Deficiency

M. Durán, B. Poll-The, J. Smeitink, 1994, Pediatric Research.

Carnitine Membrane Transporter Deficiency: A Rare Treatable Cause of Cardiomyopathy and Anemia

C. Ovaert, A. Cano, B. Chabrol, 2007, Pediatric Cardiology.

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity

Yair Anikster, H. Kayserili, Y. Anikster, 2017, Human mutation.

Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis

G. Touati, A. Bourillon, M. Elmaleh‐Bergès, 2017, Journal of Inherited Metabolic Disease.

Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency

B. Andresen, C. Pérez-Cerdá, B. Merinero, 1999, Journal of Inherited Metabolic Disease.

Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course

M. Durán, C. Pérez-Cerdá, B. Merinero, 1996, Journal of Inherited Metabolic Disease.

Mitochondrial very long chain acyl-CoA dehydrogenase deficiency--a new disorder of fatty acid oxidation.

N. Kacet, C. Largillière, J. Farriaux, 1995, Archives of disease in childhood. Fetal and neonatal edition.

Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia

P. Divry, D. Floret, M. Mathieu, 1993, European Journal of Pediatrics.

Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort

P. Laforêt, R. Froissart, B. Chabrol, 2020, Molecular genetics and metabolism reports.

Atypical Glutaric Aciduria Type I with Hemidystonia and Asymmetric Radiological Findings Misdiagnosed as an Ischemic Stroke

L. Cif, P. Coubes, T. Roujeau, 2018, Movement disorders clinical practice.

Les glycogénosesGlycogen storage diseases

R. Froissart, C. Vianey‐Saban, M. Piraud, 2010 .

Adherence to cysteamine in nephropathic cystinosis: A unique electronic monitoring experience for a better understanding. A prospective cohort study: CrYSTobs

J. Bacchetta, B. Ranchin, G. Deschênes, 2020, Pediatric Nephrology.

Lysinuric protein intolerance. Urinary amino acid excretion at 2 and 9 days of age

M. Candito, F. Sebag, M. Mathieu, 1994, Journal of Inherited Metabolic Disease.

Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities

L. Defebvre, F. Gauvrit, C. Tard, 2021, Neuromuscular Disorders.

The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency

P. Bross, B. Andresen, P. Divry, 1996, Journal of Inherited Metabolic Disease.

A 10-year-old boy with dark urine and acute kidney injury: answer

J. Harambat, B. Llanas, D. Lamireau, 2011, Pediatric nephrology (Berlin, West).

162nd ENMC International Workshop: Disorders of muscle lipid metabolism in adults 28–30 November 2008, Bussum, The Netherlands

P. Laforêt, J. Vissing, C. Vianey‐Saban, 2010, Neuromuscular Disorders.

Collaboration between academics, small pharmaceutical company and patient organizations in the development of a new formulation of cysteamine in nephropathic cystinosis: A successful story

G. Deschênes, P. Nony, C. Mercier, 2020, The´rapie (Paris).

Deficit multiple en acyl-CoA deshydrogenases : une cause traitable de lipidose musculaire d'origine genetique Multiple acyl-CoA dehydrogenase deficiency (MADD): A curable cause of genetic muscular lipidosis

P. Laforêt, B. Eymard, M. Brivet, 2010 .

Infantile form of carnitine palmitoyltransferase II deficiency in a girl with rapid fatal onset

P. Divry, N. Stremler, O. Paut, 1995, Journal of Inherited Metabolic Disease.

Determination of total fatty acids in plasma: cis-5-Tetradecenoic acid (C14:1ω-9) in the diagnosis of long-chain fatty acid oxidation defects

P. Divry, C. Vianey‐Saban, M. Mathieu, 1999, Journal of Inherited Metabolic Disease.

Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy.

C. Roe, H. Sprecher, C. Vianey‐Saban, 1996, Biochemical and molecular medicine.

Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges

N. Guffon, A. Fouilhoux, C. Acquaviva, 2023, Journal of Inherited Metabolic Disease.

Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients.

L. Christa, C. Corne, M. Milh, 2016, JIMD reports.

Improving diagnosis of mitochondrial fatty-acid oxidation disorders

J. Vockley, N. Guffon, A. Fouilhoux, 2023, European Journal of Human Genetics.

Lethal dilated cardiomyopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

P. Divry, M. L. Cardoso, E. Martins, 1996, Journal of Inherited Metabolic Disease.

CDG IIx with unusual phenotype

J. Jaeken, D. Cheillan, C. Vianey‐Saban, 2004, Journal of Inherited Metabolic Disease.

Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency

C. Angelini, C. Bruno, A. Anichini, 2011, Neurological research.