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Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources

Bone marrow transplantation (Basingstoke), 2003-06, Vol.31 (12), p.1105-1117

2003

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Les paramètres biologiques du dépistage systématique néonatal de la mucoviscidose : état des lieux après deux ans de fonctionnement en France

Immuno-analyse & biologie spécialisée, 2004-12, Vol.19 (6), p.351-356

2004

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La spectrométrie de masse en tandem appliquée au dépistage néonatal des maladies héréditaires du métabolisme : le point sur les utilisations actuelles

Annales de biologie clinique (Paris), 2004-05, Vol.62 (3), p.269-277

2004

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Human Molybdopterin Synthase Gene: Genomic Structure and Mutations in Molybdenum Cofactor Deficiency Type B

American journal of human genetics, 1999-03, Vol.64 (3), p.706-711

1999

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False‐positive results in neonatal screening for cystic fibrosis based on a three‐stage protocol (IRT/DNA/IRT): Should we adjust IRT cut‐off to ethnic origin?

Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.813-818

2005

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Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia

The journal of clinical endocrinology and metabolism, 2004-08, Vol.89 (8), p.3687-3693

2004

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

Journal of inherited metabolic disease, 2000-02, Vol.23 (1), p.45-53

2000

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Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Pediatrics (Evanston), 1988-06, Vol.81 (6), p.866

1988

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CDG IIx with unusual phenotype

Journal of inherited metabolic disease, 2004-01, Vol.27 (1), p.103-104

2004

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Molybdenum cofactor deficiency: first prenatal genetic analysis

Prenatal diagnosis, 1999-04, Vol.19 (4), p.386-388

1999

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Independent validation of the Enhanced Liver Fibrosis (ELF) score in the ANRS HC EP 23 Fibrostar cohort of patients with chronic hepatitis C

Clinical chemistry and laboratory medicine, 2012-04, Vol.50 (4), p.693-699

2012

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Including osteoprotegerin and collagen IV in a score-based blood test for liver fibrosis increases diagnostic accuracy

Clinica chimica acta, 2013-01, Vol.415, p.63-68

2013

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Automation of the Hepascore and validation as a biochemical index of liver fibrosis in patients with chronic hepatitis C from the ANRS HC EP 23 Fibrostar cohort

Clinica chimica acta, 2010-01, Vol.411 (1), p.86-91

2010

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AST/ALT ratio is not an index of liver fibrosis in chronic hepatitis C when aminotransferase activities are determinate according to the international recommendations

Clinics and research in hepatology and gastroenterology, 2013-11, Vol.37 (5), p.467-472

2013

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False negative thiosulphate screening test in a case of molybdenum cofactor deficiency

Journal of inherited metabolic disease, 1999-10, Vol.22 (7), p.842-843

1999

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Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency

Nature genetics, 1998-09, Vol.20 (1), p.51-53

1998

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Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase

Human genetics, 2005-10, Vol.117 (6), p.565-570

2005

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Dépistage systématique du syndrome de Turner

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 1995-06, Vol.2 (6), p.607-607

1995

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A mild form of infantile isolated sulphite oxidase deficiency

Neuropediatrics, 1995-12, Vol.26 (6), p.322-324

1995

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Juvenile metachromatic leukodystrophy: neurological outcome two years after bone marrow transplantation

Journal of inherited metabolic disease, 1995-03, Vol.18 (2), p.159-161

1995

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Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A

Human genetics, 1998-12, Vol.103 (6), p.639-644

1998

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Citrullinaemia and isolated sulphite oxidase deficiency in two siblings

Journal of inherited metabolic disease, 1994, Vol.17 (5), p.638-639

1994

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Molybdenum cofactor deficiency in two siblings : diagnostic difficulties

European journal of pediatrics, 1993-08, Vol.152 (8), p.662-664

1993

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Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor

Journal of inherited metabolic disease, 1996-01, Vol.19 (5), p.700-701

1996

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False-positive results in neonatal screening for cystic fibrosis based on a three-stage protocol (IRT/DNA/IRT) : Should we adjust IRT cut-off to ethnic oriein?

Journal of inherited metabolic disease, 2005, Vol.28 (6), p.813-818

2005

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Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources

Les paramètres biologiques du dépistage systématique néonatal de la mucoviscidose : état des lieux après deux ans de fonctionnement en France

La spectrométrie de masse en tandem appliquée au dépistage néonatal des maladies héréditaires du métabolisme : le point sur les utilisations actuelles

Human Molybdopterin Synthase Gene: Genomic Structure and Mutations in Molybdenum Cofactor Deficiency Type B

False‐positive results in neonatal screening for cystic fibrosis based on a three‐stage protocol (IRT/DNA/IRT): Should we adjust IRT cut‐off to ethnic origin?

Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia

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

Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

CDG IIx with unusual phenotype

Molybdenum cofactor deficiency: first prenatal genetic analysis

Independent validation of the Enhanced Liver Fibrosis (ELF) score in the ANRS HC EP 23 Fibrostar cohort of patients with chronic hepatitis C

Including osteoprotegerin and collagen IV in a score-based blood test for liver fibrosis increases diagnostic accuracy

Automation of the Hepascore and validation as a biochemical index of liver fibrosis in patients with chronic hepatitis C from the ANRS HC EP 23 Fibrostar cohort

AST/ALT ratio is not an index of liver fibrosis in chronic hepatitis C when aminotransferase activities are determinate according to the international recommendations

False negative thiosulphate screening test in a case of molybdenum cofactor deficiency

Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency

Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase

Dépistage systématique du syndrome de Turner

A mild form of infantile isolated sulphite oxidase deficiency

Juvenile metachromatic leukodystrophy: neurological outcome two years after bone marrow transplantation

Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A

Citrullinaemia and isolated sulphite oxidase deficiency in two siblings

Molybdenum cofactor deficiency in two siblings : diagnostic difficulties

Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor

False-positive results in neonatal screening for cystic fibrosis based on a three-stage protocol (IRT/DNA/IRT) : Should we adjust IRT cut-off to ethnic oriein?

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