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Clinical approach to treatable inborn metabolic diseases: An introduction

Journal of inherited metabolic disease, 2006-04, Vol.29 (2-3), p.261-274

2006

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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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Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children

Circulation (New York, N.Y.), 1999-11, Vol.100 (22), p.2248-2253

1999

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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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Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia

Pediatrics (Evanston), 2001-03, Vol.107 (3), p.476

2001

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Pyruvate carboxylase deficiency: Metabolic characteristics and new neurological aspects

Annals of neurology, 2006-01, Vol.59 (1), p.121-127

2006

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Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum

Brain (London, England : 1878), 2008-03, Vol.131 (3), p.760-761

2008

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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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Biochemical and molecular investigations in respiratory chain deficiencies

Clinica chimica acta, 1994-07, Vol.228 (1), p.35-51

1994

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Long-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patients

Pediatrics (Evanston), 2005-11, Vol.116 (5), p.1170

2005

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Clinical Features of 52 Neonates with Hyperinsulinism

The New England journal of medicine, 1999-04, Vol.340 (15), p.1169-1175

1999

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Practical management of hyperinsulinism in infancy

Archives of disease in childhood. Fetal and neonatal edition, 2000-03, Vol.82 (2), p.F98

2000

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Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: A diagnostic approach

Journal of inherited metabolic disease, 2007-11, Vol.30 (6), p.855-864

2007

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A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

Journal of medical genetics, 2001-01, Vol.38 (1), p.14-19

2001

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

Molecular genetics and metabolism, 2005-04, Vol.84 (4), p.305-312

2005

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The surgical management of congenital hyperinsulinemic hypoglycemia in infancy

Journal of pediatric surgery, 2004-03, Vol.39 (3), p.267-269

2004

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Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia

The Journal of clinical investigation, 1998-10, Vol.102 (7), p.1286-1291

1998

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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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A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis

Human genetics, 2003-07, Vol.113 (2), p.118-122

2003

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Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase

The journal of clinical endocrinology and metabolism, 2001-04, Vol.86 (4), p.1782-1787

2001

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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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Carnitine Palmitoyltransferase Deficiencies

Molecular Genetics and Metabolism, 1999-12, Vol.68 (4), p.424-440

1999

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Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency

Human mutation, 2003-05, Vol.21 (5), p.493-501

2003

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Antenatal manifestations of mitochondrial respiratory chain deficiency

The Journal of pediatrics, 2003-08, Vol.143 (2), p.208-212

2003

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Factitious hyperinsulinism leading to pancreatectomy: severe forms of Munchausen syndrome by proxy

Pediatrics (Evanston), 2005-07, Vol.116 (1), p.e145

2005

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Clinical approach to treatable inborn metabolic diseases: An introduction

Methylmalonic and propionic acidaemias: Management and outcome

Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children

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

Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia

Pyruvate carboxylase deficiency: Metabolic characteristics and new neurological aspects

Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum

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

Biochemical and molecular investigations in respiratory chain deficiencies

Long-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patients

Clinical Features of 52 Neonates with Hyperinsulinism

Practical management of hyperinsulinism in infancy

Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: A diagnostic approach

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

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

The surgical management of congenital hyperinsulinemic hypoglycemia in infancy

Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia

Secondary creatine deficiency in ornithine delta-aminotransferase deficiency

A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis

Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase

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

Carnitine Palmitoyltransferase Deficiencies

Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency

Antenatal manifestations of mitochondrial respiratory chain deficiency

Factitious hyperinsulinism leading to pancreatectomy: severe forms of Munchausen syndrome by proxy

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