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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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Novel OCTN2 mutations: No genotype-phenotype correlations: Early carnitine therapy prevents cardiomyopathy

American journal of medical genetics, 2002-08, Vol.111 (3), p.271-284

2002

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Dancing Eye Syndrome and Hyperphosphatasemia

Pediatric neurology, 1998-05, Vol.18 (5), p.432-434

1998

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Prognostic utility of SEPs in comatose children

Pediatric neurology, 1987-03, Vol.3 (2), p.78-82

1987

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Evoked potentials in comatose children: Auditory brainstem responses

Pediatric neurology, 1986, Vol.2 (1), p.31-34

1986

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Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle

Inborn Metabolic Diseases, 2006, p.161-174

2006

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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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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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Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients

Journal of medical genetics, 2018-01, Vol.55 (1), p.21-27

2018

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Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Nature genetics, 2017-03, Vol.49 (3), p.457-464

2017

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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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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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Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

Neurology, 2016-06, Vol.86 (23), p.2171-2178

2016

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Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

Journal of inherited metabolic disease, 2019-01, Vol.42 (1), p.93-106

2019

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Mutations in PEX10 are a cause of autosomal recessive ataxia

Annals of neurology, 2010-08, Vol.68 (2), p.259-263

2010

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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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Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

The lancet. Diabetes & endocrinology, 2019-09, Vol.7 (9), p.695-706

2019

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Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial

Journal of inherited metabolic disease, 2018-12, Vol.41 (6), p.1215-1223

2018

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Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants

Neurology, 2018-04, Vol.90 (16), p.e1395

2018

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Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

Annals of neurology, 2017-12, Vol.82 (6), p.1004-1015

2017

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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Orphanet journal of rare diseases, 2018-07, Vol.13 (1), p.120-120, Article 120

2018

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Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis

Journal of inherited metabolic disease, 2018-11, Vol.41 (6), p.1225-1233

2018

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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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Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome

Neuropediatrics, 2015-04, Vol.46 (2), p.98-103

2015

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Lactic Acidosis in a Newborn With Adrenal Calcifications

Novel OCTN2 mutations: No genotype-phenotype correlations: Early carnitine therapy prevents cardiomyopathy

Dancing Eye Syndrome and Hyperphosphatasemia

Prognostic utility of SEPs in comatose children

Evoked potentials in comatose children: Auditory brainstem responses

Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle

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

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

Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients

Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Revised recommendations for the management of Gaucher disease in children

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

Mutations in PEX10 are a cause of autosomal recessive ataxia

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

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial

Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants

Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis

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

Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases

Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome

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