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A lethal defect of mitochondrial and peroxisomal fission.
- H. Waterham, J. Koster, C. V. van Roermund, P. Mooyer, R. Wanders, J. Leonard
- Biology, Medicine
- The New England journal of medicine
- 26 April 2007
We report on a newborn girl with microcephaly, abnormal brain development, optic atrophy and hypoplasia, persistent lactic acidemia, and a mildly elevated plasma concentration of very-long-chain… Expand
Diagnosis and management of glutaric aciduria type I – revised recommendations
- S. Kölker, E. Christensen, +16 authors P. Burgard
- Journal of Inherited Metabolic Disease
- 23 March 2011
Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. Untreated patients characteristically develop dystonia during infancy resulting in a high morbidity and… Expand
Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European study on glycogen storage disease type I (ESGSD I)
Glycogen storage disease type I (GSD I) is a relatively rare metabolic disease and therefore, no metabolic centre has experience of large numbers of patients. To document outcome, to develop… Expand
Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency
Glutaryl-CoA dehydrogenase (GCDH) deficiency is a rare inborn disorder of l-lysine, l-hydroxylysine, and l-tryptophan metabolism complicated by striatal damage during acute encephalopathic crises.… Expand
Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I)
- J. Rake, G. Visser, P. Labrune, J. Leonard, K. Ullrich, Peter G. Smit
- European Journal of Pediatrics
Abstract. Glycogen storage disease type I (GSD I) is a relatively rare metabolic disease and therefore, no metabolic centre has experience of large numbers of patients. To document outcome, to… Expand
Neonatal screening for inborn errors of metabolism: cost, yield and outcome.
OBJECTIVES. To systematically review the literature on inborn errors of metabolism, neonatal screening technology and screening programmes in order to analyse the costs and benefits of introducing… Expand
Recommendations for the management of tyrosinaemia type 1
- C. de Laet, C. Dionisi-Vici, +6 authors U. Spiekerkoetter
- Medicine, Biology
- Orphanet Journal of Rare Diseases
- 11 January 2013
The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not… Expand
Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway
Long-term deficiency of cobalamin or folate causes a demyelinating disease of the brain and spinal cord. A reduced supply of methyl groups has been implicated as its cause. To examine the mechanisms… Expand
Urea cycle disorders.
Most patients with urea cycle disorders who present as neonates, do so with deteriorating feeding, drowsiness and tachypnoea, following a short initial period when they appear well. The plasma… Expand
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency.
BACKGROUND Glutaryl-CoA dehydrogenase deficiency (GDD) is a recessively inherited neurometabolic disorder associated with encephalopathic crises and severe extrapyramidal symptoms. Treatment regimens… Expand