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Inborn Metabolic Diseases: Diagnosis and Treatment

Seventh edition, 2022

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An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders

Dialogues in clinical neuroscience, 2018-12, Vol.20 (4), p.301-325

2018

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Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians

Journal of inherited metabolic disease, 2019-07, Vol.42 (4), p.706-727

2019

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The phenotype of adult versus pediatric patients with inborn errors of metabolism

Journal of inherited metabolic disease, 2018-09, Vol.41 (5), p.753-756

2018

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An overview of inborn errors of complex lipid biosynthesis and remodelling

Journal of inherited metabolic disease, 2015-01, Vol.38 (1), p.3-18

2015

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Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology

Journal of inherited metabolic disease, 2018-12, Vol.41 (6), p.1043-1054

2018

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Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis

Developmental medicine and child neurology, 2010-02, Vol.52 (2), p.e1-e9

2010

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The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview

Journal of inherited metabolic disease, 2015-01, Vol.38 (1), p.19-40

2015

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Glucose Metabolism in 105 Children and Adolescents After Pancreatectomy for Congenital Hyperinsulinism

Diabetes care, 2012-02, Vol.35 (2), p.198-203

2012

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Hypoglycaemia related to inherited metabolic diseases in adults

Orphanet journal of rare diseases, 2012-05, Vol.7 (1), p.26-26

2012

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Genetic disorders of cellular trafficking

Trends in genetics, 2022-07, Vol.38 (7), p.724-751

2022

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Complex lipids

Journal of inherited metabolic disease, 2015-01, Vol.38 (1), p.1-1

2015

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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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Neurometabolic disorders

Journal of inherited metabolic disease, 2009-10, Vol.32 (5), p.595-596

Saudubray, Jean-Marie

2009

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Endocrine manifestations related to inherited metabolic diseases in adults

Orphanet journal of rare diseases, 2012-01, Vol.7 (1), p.11-11

2012

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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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Inborn Metabolic Diseases: Diagnosis and Treatment

6th ed. 2016 edition., 2016

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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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An Analysis of the Association between Serum Citrulline and Acute Rejection among 26 Recipients of Intestinal Transplant

American journal of transplantation, 2004-07, Vol.4 (7), p.1124-1132

2004

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Reply: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

Brain (London, England : 1878), 2016-01, Vol.139 (Pt 1), p.e4-e4

2016

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Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases

European journal of pediatrics, 2002-10, Vol.161 (1), p.37-48

2002

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Peripheral neuropathy and inborn errors of metabolism in adults

Journal of inherited metabolic disease, 2007-10, Vol.30 (5), p.642-653

2007

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The Knudson’s Two-Hit Model and Timing of Somatic Mutation May Account for the Phenotypic Diversity of Focal Congenital Hyperinsulinism

The journal of clinical endocrinology and metabolism, 2006-10, Vol.91 (10), p.4118-4123

2006

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New insights in inborn errors of metabolism are leading to new paradigms in child neurology

Revista de neurologiá, 2018-06, Vol.66 (s02), p.S37-S42

2018

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Inborn Metabolic Diseases: Diagnosis and Treatment

An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders

Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians

The phenotype of adult versus pediatric patients with inborn errors of metabolism

An overview of inborn errors of complex lipid biosynthesis and remodelling

Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview

Glucose Metabolism in 105 Children and Adolescents After Pancreatectomy for Congenital Hyperinsulinism

Hypoglycaemia related to inherited metabolic diseases in adults

Genetic disorders of cellular trafficking

Complex lipids

Pyruvate carboxylase deficiency: Metabolic characteristics and new neurological aspects

Neurometabolic disorders

Endocrine manifestations related to inherited metabolic diseases in adults

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

Inborn Metabolic Diseases: Diagnosis and Treatment

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

An Analysis of the Association between Serum Citrulline and Acute Rejection among 26 Recipients of Intestinal Transplant

Reply: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases

Peripheral neuropathy and inborn errors of metabolism in adults

The Knudson’s Two-Hit Model and Timing of Somatic Mutation May Account for the Phenotypic Diversity of Focal Congenital Hyperinsulinism

New insights in inborn errors of metabolism are leading to new paradigms in child neurology

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