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NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients

Journal of inherited metabolic disease, 2008-02, Vol.31 (1), p.81-87

2008

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Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome

Rheumatology (Oxford, England), 2007-10, Vol.46 (10), p.1597-1600

2007

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Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy

Journal of inherited metabolic disease, 2006-02, Vol.29 (1), p.135-142

2006

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Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease

Neuropediatrics, 2005-08, Vol.36 (4), p.252

2005

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Atypical MRI findings in Canavan disease: a patient with a mild course

Neuropediatrics, 2005-10, Vol.36 (5), p.336

2005

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Fetal type IV glycogen storage disease: Clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family

American journal of medical genetics. Part A, 2005-12, Vol.139A (2), p.118-122

2005

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Common resistance mechanisms to deoxynucleoside analogues in variants of the human erythroleukaemic line K562

British journal of haematology, 1999-07, Vol.106 (1), p.78-85

1999

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First‐trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria

Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.1141-1142

2005

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Primary hyperoxaluria in infants: Medical, ethical, and economic issues

The Journal of pediatrics, 1999-12, Vol.135 (6), p.746-750

1999

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Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia

Journal of inherited metabolic disease, 2000-02, Vol.23 (1), p.22-26

2000

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Reversal of Early Neurologic and Neuroradiologic Manifestations of X-Linked Adrenoleukodystrophy by Bone Marrow Transplantation

The New England journal of medicine, 1990-06, Vol.322 (26), p.1860-1866

1990

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Seventeen novel mutations that cause profound biotinidase deficiency

Molecular genetics and metabolism, 2002-09, Vol.77 (1), p.108-111

2002

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

Annals of neurology, 1998-11, Vol.44 (5), p.720-730

1998

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Combined liver-kidney transplantation in primary hyperoxaluria type 1

European journal of pediatrics, 1999-12, Vol.158 Suppl 2 (S2), p.S75-S080

1999

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The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency

Molecular genetics and metabolism, 2004-08, Vol.82 (4), p.334-338

2004

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Retroviral-Mediated Gene Transfer Corrects Very-Long-Chain Fatty Acid Metabolism in Adrenoleukodystrophy Fibroblasts

Proceedings of the National Academy of Sciences - PNAS, 1995-02, Vol.92 (5), p.1674-1678

1995

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Identification of a Mutation Cluster in Mevalonate Kinase Deficiency, Including a New Mutation in a Patient of Mennonite Ancestry

American journal of human genetics, 1999-08, Vol.65 (2), p.327-335

1999

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An intestinal obstruction in an eight-month-old child suffering from mevalonic aciduria

Acta Paediatrica, 2002-06, Vol.91 (6), p.714-716

2002

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Succinyl‐CoA:acetoacetate transferase deficiency. Identification of a new case; prenatal exclusion in three further pregnancies

Journal of inherited metabolic disease, 1998-08, Vol.21 (6), p.687-688

1998

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A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia

Human genetics, 1998-04, Vol.102 (4), p.430-434

1998

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Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations

Prenatal diagnosis, 1999-08, Vol.19 (8), p.717-720

1999

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A new case of 2‐methylacetoacetyl‐CoA thiolase deficiency?

Journal of inherited metabolic disease, 2000-11, Vol.23 (7), p.751-753

2000

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Mutations in the pterin-4α-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia

Human genetics, 1998-09, Vol.103 (2), p.162-167

1998

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Late onset 3-HMG-CoA lyase deficiency: a rare but treatable disorder

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2010-01, Vol.17 (1), p.10-13

2010

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Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionineβ‐synthase mutations

Journal of inherited metabolic disease, 1996-01, Vol.19 (3), p.351-356

1996

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NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients

Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome

Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy

Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease

Atypical MRI findings in Canavan disease: a patient with a mild course

Fetal type IV glycogen storage disease: Clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family

Common resistance mechanisms to deoxynucleoside analogues in variants of the human erythroleukaemic line K562

First‐trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria

Primary hyperoxaluria in infants: Medical, ethical, and economic issues

Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia

Reversal of Early Neurologic and Neuroradiologic Manifestations of X-Linked Adrenoleukodystrophy by Bone Marrow Transplantation

Seventeen novel mutations that cause profound biotinidase deficiency

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

Combined liver-kidney transplantation in primary hyperoxaluria type 1

The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency

Retroviral-Mediated Gene Transfer Corrects Very-Long-Chain Fatty Acid Metabolism in Adrenoleukodystrophy Fibroblasts

Identification of a Mutation Cluster in Mevalonate Kinase Deficiency, Including a New Mutation in a Patient of Mennonite Ancestry

An intestinal obstruction in an eight-month-old child suffering from mevalonic aciduria

Succinyl‐CoA:acetoacetate transferase deficiency. Identification of a new case; prenatal exclusion in three further pregnancies

A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia

Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations

A new case of 2‐methylacetoacetyl‐CoA thiolase deficiency?

Mutations in the pterin-4α-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia

Late onset 3-HMG-CoA lyase deficiency: a rare but treatable disorder

Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionineβ‐synthase mutations

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