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Mucopolysaccharidosis VI

Orphanet journal of rare diseases, 2010-04, Vol.5 (1), p.5-5, Article 5

2010

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A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

The New England journal of medicine, 2015-09, Vol.373 (11), p.1010-1020

2015

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Suggested guidelines for the diagnosis and management of urea cycle disorders

Orphanet journal of rare diseases, 2012-05, Vol.7 (1), p.32-32

2012

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Congenital hyperinsulinism: current trends in diagnosis and therapy

Orphanet journal of rare diseases, 2011-10, Vol.6 (1), p.63-63, Article 63

2011

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Clinical Features of Lysosomal Acid Lipase Deficiency

Journal of pediatric gastroenterology and nutrition, 2015-12, Vol.61 (6), p.619-625

2015

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UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses

Analytica chimica acta, 2016-09, Vol.936, p.139-148

2016

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Cardiomyopathies in Propionic Aciduria are Reversible After Liver Transplantation

The Journal of pediatrics, 2010, Vol.156 (1), p.128-134

2010

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Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

Nutrients, 2021-10, Vol.13 (11), p.3828

2021

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Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

Genetics in medicine, 2016-05, Vol.18 (5), p.452-458

2016

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Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients

Orphanet journal of rare diseases, 2015-05, Vol.10 (1), p.58-58, Article 58

2015

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Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

Orphanet journal of rare diseases, 2011-08, Vol.6 (1), p.55-55, Article 55

2011

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Impact of age at onset and newborn screening on outcome in organic acidurias

Journal of inherited metabolic disease, 2016-05, Vol.39 (3), p.341-353

2016

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Idursulfase treatment of Hunter syndrome in children younger than 6 years: Results from the Hunter Outcome Survey

Genetics in medicine, 2011-02, Vol.13 (2), p.102-109

2011

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Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias

Orphanet journal of rare diseases, 2018-06, Vol.13 (1), p.97-97, Article 97

2018

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Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)

Journal of inherited metabolic disease, 2013-03, Vol.36 (2), p.373-384

2013

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LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

Human mutation, 2010-07, Vol.31 (7), p.E1564-E1573

2010

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Neurological aspects of hyperinsulinism–hyperammonaemia syndrome

Developmental medicine and child neurology, 2008-12, Vol.50 (12), p.945-949

2008

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Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

Orphanet journal of rare diseases, 2012-06, Vol.7 (1), p.36-36

2012

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Comorbidity and metabolic context are crucial factors determining neurological sequelae of hypoglycaemia

Developmental medicine and child neurology, 2012-11, Vol.54 (11), p.1012-1017

2012

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Enzyme replacement therapy and substrate reduction therapy in lysosomal storage disorders with neurological expression

Handbook of Clinical Neurology, 2013, Vol.113, p.1851-1857

Valayannopoulos, Vassili

2013

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Diagnostic work-up in acute conditions of inborn errors of metabolism and storage diseases

Handbook of Clinical Neurology, 2013, Vol.113, p.1553-1562

2013

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Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care

European journal of endocrinology, 2011-02, Vol.164 (2), p.309-314

2011

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Therapy for the mucopolysaccharidoses

Rheumatology (Oxford, England), 2011-12, Vol.50 (suppl_5), p.v49-v59

2011

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Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome

Journal of inherited metabolic disease, 2013-01, Vol.36 (1), p.103-112

2013

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Lysosomal acid lipase deficiency: Expanding differential diagnosis

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.62-66

2017

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Mucopolysaccharidosis VI

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

Suggested guidelines for the diagnosis and management of urea cycle disorders

Congenital hyperinsulinism: current trends in diagnosis and therapy

Clinical Features of Lysosomal Acid Lipase Deficiency

UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses

Cardiomyopathies in Propionic Aciduria are Reversible After Liver Transplantation

Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

Impact of age at onset and newborn screening on outcome in organic acidurias

Idursulfase treatment of Hunter syndrome in children younger than 6 years: Results from the Hunter Outcome Survey

Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias

Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

Neurological aspects of hyperinsulinism–hyperammonaemia syndrome

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

Comorbidity and metabolic context are crucial factors determining neurological sequelae of hypoglycaemia

Enzyme replacement therapy and substrate reduction therapy in lysosomal storage disorders with neurological expression

Diagnostic work-up in acute conditions of inborn errors of metabolism and storage diseases

Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care

Therapy for the mucopolysaccharidoses

Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome

Lysosomal acid lipase deficiency: Expanding differential diagnosis

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