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Inborn Metabolic Diseases: Diagnosis and Treatment

Seventh edition, 2022

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Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases

Journal of inherited metabolic disease, 2013-05, Vol.36 (3), p.411-425

2013

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Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults

Journal of inherited metabolic disease, 2007-10, Vol.30 (5), p.631-641

2007

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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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Movement disorders and inborn errors of metabolism in adults: A diagnostic approach

Journal of inherited metabolic disease, 2008-06, Vol.31 (3), p.308-318

2008

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Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein

Molecular genetics and metabolism, 2011-12, Vol.104 (4), p.507-516

2011

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Leukoencephalopathies associated with inborn errors of metabolism in adults

Journal of inherited metabolic disease, 2008-06, Vol.31 (3), p.295-307

2008

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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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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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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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Practical management of hyperinsulinism in infancy

Archives of disease in childhood. Fetal and neonatal edition, 2000-03, Vol.82 (2), p.F98-F107

2000

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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.1170-1177

2005

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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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Inborn Metabolic Diseases: Diagnosis and Treatment

6th ed. 2016 edition., 2016

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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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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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Les maladies héréditaires du métabolisme à l’âge adulte

Annales d'endocrinologie, 2009, Vol.70 (1), p.14-24

2009

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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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Epilepsy and inborn errors of metabolism in adults: A diagnostic approach

Journal of inherited metabolic disease, 2007-11, Vol.30 (6), p.846-854

2007

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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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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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Dihydropteridine reductase deficiency: levodopa's long-term effectiveness without dyskinesia

Neurology, 2006-12, Vol.67 (12), p.2243-2245

2006

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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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Breast feeding in IMD

Journal of inherited metabolic disease, 2006-04, Vol.29 (2-3), p.299-303

2006

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Inborn Metabolic Diseases: Diagnosis and Treatment

Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases

Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults

Clinical approach to treatable inborn metabolic diseases: An introduction

Movement disorders and inborn errors of metabolism in adults: A diagnostic approach

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein

Leukoencephalopathies associated with inborn errors of metabolism in adults

Methylmalonic and propionic acidaemias: Management and outcome

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

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

Practical management of hyperinsulinism in infancy

Biochemical and molecular investigations in respiratory chain deficiencies

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

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

Inborn Metabolic Diseases: Diagnosis and Treatment

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

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

Les maladies héréditaires du métabolisme à l’âge adulte

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

Epilepsy and inborn errors of metabolism in adults: A diagnostic approach

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

Clinical Features of 52 Neonates with Hyperinsulinism

Dihydropteridine reductase deficiency: levodopa's long-term effectiveness without dyskinesia

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

Breast feeding in IMD

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