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Methylmalonic and propionic acidaemias: Management and outcome

Journal of inherited metabolic disease, 2005-05, Vol.28 (3), p.415-423

2005

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

Molecular genetics and metabolism, 2013-09, Vol.110 (1-2), p.106-110

2013

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Hydroxyproline

EMC - Biologie médicale, 2010-01, Vol.5 (1), p.1-3

Rabier, D.

2010

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

Molecular genetics and metabolism, 2011-08, Vol.103 (4), p.341-348

2011

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Urea cycle defects: Management and outcome

Journal of inherited metabolic disease, 2005-01, Vol.28 (3), p.407-414

2005

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

Molecular genetics and metabolism, 2009-07, Vol.97 (3), p.172-178

2009

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

European journal of medical genetics, 2015-03, Vol.58 (3), p.148-153

2015

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

Journal of inherited metabolic disease, 2006-04, Vol.29 (2-3), p.288-298

2006

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

Journal of inherited metabolic disease, 2013-11, Vol.36 (6), p.939-944

2013

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Secondary creatine deficiency in ornithine delta-aminotransferase deficiency

Molecular genetics and metabolism, 2009-06, Vol.97 (2), p.109-113

2009

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

Journal of inherited metabolic disease, 1999-06, Vol.22 (4), p.488-502

1999

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

Molecular genetics and metabolism, 2008-09, Vol.95 (1), p.107-109

2008

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Metabolism of citrulline in man

Amino acids, 1995-12, Vol.9 (4), p.299-316

1995

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Gestational age-related reference values for amniotic fluid organic acids

Prenatal diagnosis, 2010-01, Vol.30 (1), p.43-48

2010

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Contribution of Fetal MR Imaging in the Prenatal Diagnosis of Zellweger Syndrome

American Journal of Neuroradiology, 2006-02, Vol.27 (2), p.333-336

2006

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Kinetic Analyses Guide the Therapeutic Decision in a Novel Form of Moderate Aromatic Acid Decarboxylase Deficiency

JIMD Reports - Case and Research Reports, 2011/3, 2012-01, Vol.3, p.25-32

2012

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

Journal of inherited metabolic disease, 2009, Vol.32 (2), p.159-162

2009

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Liver transplantation in urea cycle disorders

European journal of pediatrics, 1999-12, Vol.158 Suppl 2 (S2), p.S55-S059

1999

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

Journal of inherited metabolic disease, 2002-02, Vol.25 (1), p.1-6

2002

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P014 Argininosuccinate synthétase dans les mitochondries du tubule proximal de rein de souris

Nutrition clinique et métabolisme, 2007-11, Vol.21, p.53-53

2007

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

Developmental medicine and child neurology, 2004-08, Vol.46 (8), p.564-568

2004

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use of MapPop1.0 for choosing a QTL mapping sample from an advanced backcross population

Theoretical and applied genetics, 2007-04, Vol.114 (6), p.1019-1028

2007

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Devenir à moyen terme de deux cas de leucinose : place de la transplantation hépatique dans le traitement

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 1994-08, Vol.1 (8), p.730-734

1994

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

Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.1136-1138

2005

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

The Journal of clinical investigation, 1994-06, Vol.93 (6), p.2514-2518

1994

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Methylmalonic and propionic acidaemias: Management and outcome

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

Hydroxyproline

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

Urea cycle defects: Management and outcome

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

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

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

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

Secondary creatine deficiency in ornithine delta-aminotransferase deficiency

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

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

Metabolism of citrulline in man

Gestational age-related reference values for amniotic fluid organic acids

Contribution of Fetal MR Imaging in the Prenatal Diagnosis of Zellweger Syndrome

Kinetic Analyses Guide the Therapeutic Decision in a Novel Form of Moderate Aromatic Acid Decarboxylase Deficiency

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

Liver transplantation in urea cycle disorders

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

P014 Argininosuccinate synthétase dans les mitochondries du tubule proximal de rein de souris

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

use of MapPop1.0 for choosing a QTL mapping sample from an advanced backcross population

Devenir à moyen terme de deux cas de leucinose : place de la transplantation hépatique dans le traitement

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

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

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