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Zeitschrift

Journal of Inherited Metabolic Disease

Official Journal of the Society for the Study of Inborn Errors of Metabolism

Journal of Inherited Metabolic Disease OnlineFirst articles

07.09.2018 | Original Article

The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD)

Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is the most common defect of mitochondrial β-oxidation of long-chain fatty acids. However, the unambiguous diagnosis of true VLCADD patients may be challenging, and a high rate of false …

03.09.2018 | Original Article

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

The metabolism of homocysteine (Hcy) involves multiple pathways. Several inherited disorders within this complex machinery have been discovered. Hcy is formed from the amino acid methionine (Met). Hcy is either converted into cysteine via the …

30.08.2018 | Original Article Open Access

Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

Mitochondrial DNA (mtDNA) depletion syndromes (MDDS) are caused by defects in mtDNA maintenance due to mutations in nuclear genes which affect either mitochondrial deoxyribonucleoside triphosphate supply or components of the mtDNA replication …

29.08.2018 | Original Article

Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population

Phenylketonuria (PKU) is an inborn error of amino acid metabolism caused by mutations in the phenylalanine hydroxylase (PAH) gene, characterized by intellectual deficit and neuropsychiatric complications in untreated patients with estimated …

29.08.2018 | Original Article Open Access

Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias

The branched chain amino acids isoleucine, valine, and leucine are essential nutrients for human growth and development (Adibi 1976 ). The enzymes methylmalonyl-CoA mutase, propionyl-CoA carboxylase, and isovaleryl-CoA dehydrogenase play pivotal …

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The Journal of Inherited Metabolic Disease is proud to announce its key performance indicators:

Impact Factor: 3.365 (2014)

Usage: over 15,700 in 2014 downloads per month

Time to first decision: 27 days

Time from acceptance to online publication: 28 days

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