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Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

European journal of pediatrics, 2008-03, Vol.167 (3), p.267-277

2008

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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Journal of inherited metabolic disease, 2015-11, Vol.38 (6), p.1059-1074

2015

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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Journal of inherited metabolic disease, 2015-11, Vol.38 (6), p.1041-1057

2015

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A multicenter study on Leigh syndrome: disease course and predictors of survival

Orphanet journal of rare diseases, 2014-04, Vol.9 (1), p.52-52

2014

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Steroids in intractable childhood epilepsy: Clinical experience and review of the literature

Seizure (London, England), 2005-09, Vol.14 (6), p.412-421

2005

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Influence of botulinum toxin therapy on postural control and lower limb intersegmental coordination in children with spastic cerebral palsy

Toxins, 2013-01, Vol.5 (1), p.93-105

2013

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Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Brain (London, England : 1878), 2011-01, Vol.134 (Pt 1), p.143-156

2011

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Phenotypic plasticity and the perception–action–cognition–environment paradigm in neurodevelopmental genetic disorders

Developmental medicine and child neurology, 2015-04, Vol.57 (s2), p.52-54

2015

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Revised recommendations for the management of Gaucher disease in children

European journal of pediatrics, 2013-04, Vol.172 (4), p.447-458

2013

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De novo LMNA mutations cause a new form of congenital muscular dystrophy

Annals of neurology, 2008-08, Vol.64 (2), p.177-186

2008

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Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Orphanet journal of rare diseases, 2011-11, Vol.6 (1), p.72-72, Article 72

2011

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Disorders of pyruvate metabolism

Handbook of Clinical Neurology, 2013, Vol.113, p.1667-1673

Meirleir, Linda De

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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A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome

PloS one, 2014-11, Vol.9 (11), p.e112950-e112950

2014

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Treatment and long term outcome in West syndrome: The clinical reality. A multicentre follow up study

Seizure (London, England), 2010-04, Vol.19 (3), p.159-164

2010

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X-Linked Cobalamin Disorder ( HCFC1 ) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid

Pediatric neurology, 2017-06, Vol.71, p.65-69

2017

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Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: Improved survival by prompt diagnosis

American journal of medical genetics. Part A, 2015-01, Vol.167A (1), p.211-214

2015

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Blue Native Polyacrylamide Gel Electrophoresis: A Powerful Tool in Diagnosis of Oxidative Phosphorylation Defects

Pediatric research, 2001-11, Vol.50 (5), p.658-665

2001

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Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: A case report and review of literature

European journal of paediatric neurology, 2014-05, Vol.18 (3), p.420-426

2014

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Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses

JIMD reports, 2019-09, Vol.49 (1), p.70-79

2019

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Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis: Long-Term Data of Enzyme Replacement Therapy With Velmanase Alfa (Human Recombinant Alpha Mannosidase)

Journal of inborn errors of metabolism and screening, 2018-09, Vol.6, p.232640981879685

2018

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Defining the Pathogenesis of the Human Atp12p W94R Mutation Using a Saccharomyces cerevisiae Yeast Model

The Journal of biological chemistry, 2010-02, Vol.285 (6), p.4099-4109

2010

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Lactic Acidosis in a Newborn With Adrenal Calcifications

Pediatric research, 2009-09, Vol.66 (3), p.317-322

2009

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Access to early diagnostics, intervention, and support for children with a neurobiological developmental delay or disorder

Developmental medicine and child neurology, 2017-12, Vol.59 (12), p.1215-1216

2017

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Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis

Journal of inborn errors of metabolism and screening, 2018-09, Vol.6

2018

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Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

A multicenter study on Leigh syndrome: disease course and predictors of survival

Steroids in intractable childhood epilepsy: Clinical experience and review of the literature

Influence of botulinum toxin therapy on postural control and lower limb intersegmental coordination in children with spastic cerebral palsy

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Phenotypic plasticity and the perception–action–cognition–environment paradigm in neurodevelopmental genetic disorders

Revised recommendations for the management of Gaucher disease in children

De novo LMNA mutations cause a new form of congenital muscular dystrophy

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Disorders of pyruvate metabolism

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

A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome

Treatment and long term outcome in West syndrome: The clinical reality. A multicentre follow up study

X-Linked Cobalamin Disorder ( HCFC1 ) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid

Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: Improved survival by prompt diagnosis

Blue Native Polyacrylamide Gel Electrophoresis: A Powerful Tool in Diagnosis of Oxidative Phosphorylation Defects

Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: A case report and review of literature

Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses

Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis: Long-Term Data of Enzyme Replacement Therapy With Velmanase Alfa (Human Recombinant Alpha Mannosidase)

Defining the Pathogenesis of the Human Atp12p W94R Mutation Using a Saccharomyces cerevisiae Yeast Model

Lactic Acidosis in a Newborn With Adrenal Calcifications

Access to early diagnostics, intervention, and support for children with a neurobiological developmental delay or disorder

Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis

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