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Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop

Journal of inherited metabolic disease, 2009-08, Vol.32 (4), p.498-505

2009

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Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop

Journal of inherited metabolic disease, 2009-08, Vol.32 (4), p.488-497

2009

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Structural white matter changes in adolescents and young adults with maple syrup urine disease

Journal of inherited metabolic disease, 2013-11, Vol.36 (6), p.945-953

2013

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Variant maple syrup urine disease (MSUD)—The entire spectrum

Journal of inherited metabolic disease, 2006-12, Vol.29 (6), p.716-724

2006

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Maple syrup urine disease: Favourable effect of early diagnosis by newborn screening on the neonatal course of the disease

Journal of inherited metabolic disease, 2006-08, Vol.29 (4), p.532-537

2006

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Social outcome in adults with maple syrup urine disease (MSUD)

Journal of inherited metabolic disease, 2007-04, Vol.30 (2), p.264-264

2007

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Description of the mutations in 15 subjects with variant forms of maple syrup urine disease

Journal of inherited metabolic disease, 2007-11, Vol.30 (6), p.903-909

2007

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Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease

Molecular genetics and metabolism, 2004-05, Vol.82 (1), p.69-75

2004

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Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment

Journal of inherited metabolic disease, 2008-12, Vol.31 (Suppl 2), p.223-225

2008

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Dietary long‐chain polyunsaturated fatty acid supplementation in infants with phenylketonuria: a randomized controlled trial

Journal of inherited metabolic disease, 2007-06, Vol.30 (3), p.326-332

2007

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Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test

Journal of inherited metabolic disease, 2009-08, Vol.32 (4), p.506-513

2009

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Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress

European journal of clinical investigation, 2004-03, Vol.34 (3), p.191-196

2004

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Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres

Journal of inherited metabolic disease, 2008-06, Vol.31 (3), p.361-367

2008

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Diagnosis of MSUD by newborn screening allows early intervention without extraneous detoxification

Molecular genetics and metabolism, 2005-04, Vol.84 (4), p.313-316

2005

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Rare metabolic diseases

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, 2007-12, Vol.50 (12), p.1556-1563

2007

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Carnitine supplementation induces long‐chain acylcarnitine production—Studies in the VLCAD‐deficient mouse

Journal of inherited metabolic disease, 2006-04, Vol.29 (2-3), p.343-344

2006

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General Screening for Celiac Disease is Advisable in Children with Type 1 Diabetes

Hormone and metabolic research, 2002-04, Vol.34 (4), p.192-195

2002

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Evidence for Impaired Gluconeogenesis in Very Long-chain Acyl-CoA Dehydrogenase-deficient Mice

Hormone and metabolic research, 2006-10, Vol.38 (10), p.625-630

2006

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Immunoglobulin Isotype Profile of Tissue Transglutaminase Autoantibodies is Correlated with the Clinical Presentation of Coeliac Disease

Scandinavian journal of immunology, 2005-02, Vol.61 (2), p.207-212

2005

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Development of Metabolic Phenotype in Phenylketonuria: Evaluation of the Blaskovics Protein Loading Test at 5 Years of Age

JIMD Reports, Volume 29, 2016, Vol.29, p.77-84

2016

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The effect of short-term dimethylglycine treatment on oxygen consumption in cytochrome oxidase deficiency: A double-blind randomized crossover clinical trial

The Journal of pediatrics, 2003-01, Vol.142 (1), p.62-66

2003

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Acute neuronopathic Gaucher disease complicated by fatal gastrointestinal bleeding

Neuropediatrics, 2006-06, Vol.37 (3), p.163

2006

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Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis

Annals of neurology, 2000-06, Vol.47 (6), p.776-781

2000

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Long-term follow-up of 114 patients with congenital hyperinsulinism

European journal of endocrinology, 2003-07, Vol.149 (1), p.43

2003

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Metabolism of branched-chain amino acids in maple syrup urine disease

European journal of pediatrics, 1997-08, Vol.156 Suppl 1 (S1), p.S62-S66

1997

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Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop

Structural white matter changes in adolescents and young adults with maple syrup urine disease

Variant maple syrup urine disease (MSUD)—The entire spectrum

Maple syrup urine disease: Favourable effect of early diagnosis by newborn screening on the neonatal course of the disease

Social outcome in adults with maple syrup urine disease (MSUD)

Description of the mutations in 15 subjects with variant forms of maple syrup urine disease

Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease

Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment

Dietary long‐chain polyunsaturated fatty acid supplementation in infants with phenylketonuria: a randomized controlled trial

Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test

Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress

Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres

Diagnosis of MSUD by newborn screening allows early intervention without extraneous detoxification

Rare metabolic diseases

Carnitine supplementation induces long‐chain acylcarnitine production—Studies in the VLCAD‐deficient mouse

General Screening for Celiac Disease is Advisable in Children with Type 1 Diabetes

Evidence for Impaired Gluconeogenesis in Very Long-chain Acyl-CoA Dehydrogenase-deficient Mice

Immunoglobulin Isotype Profile of Tissue Transglutaminase Autoantibodies is Correlated with the Clinical Presentation of Coeliac Disease

Development of Metabolic Phenotype in Phenylketonuria: Evaluation of the Blaskovics Protein Loading Test at 5 Years of Age

The effect of short-term dimethylglycine treatment on oxygen consumption in cytochrome oxidase deficiency: A double-blind randomized crossover clinical trial

Acute neuronopathic Gaucher disease complicated by fatal gastrointestinal bleeding

Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis

Long-term follow-up of 114 patients with congenital hyperinsulinism

Metabolism of branched-chain amino acids in maple syrup urine disease

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