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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

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 …

22.08.2018 | Review

Clinical effectiveness of enzyme replacement therapy with galsulfase in mucopolysaccharidosis type VI treatment: systematic review

Mucopolysaccharidosis VI (MPS VI), also known as Maroteaux–Lamy syndrome, is a lysosomal storage metabolic disease. It is characterized by the enzyme arylsulfatase B deficiency (ASB), which leads to glycosaminoglycan (GAG) dermatan sulfate (DS) …

21.08.2018 | Original Article

Allogeneic haematopoietic stem cell transplantation with myeloablative conditioning for adult cerebral X-linked adrenoleukodystrophy

The adult cerebral form of X-linked adrenoleukodystrophy (ACALD), an acute inflammatory demyelinating disease, results in a rapidly progressive neurodegeneration, typically leading to severe disability or death within a few years after onset. We …

24.07.2018 | Original Article

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy

Pyridoxine dependent epilepsy (PDE) is a treatable epileptic encephalopathy characterized by a positive response to pharmacologic doses of pyridoxine. Despite seizure control, at least 75% of individuals have intellectual disability and …

09.07.2018 | Original Article Open Access

Results from a 78-week, single-arm, open-label Phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)

Long-chain fatty acid oxidation disorders (LC-FAOD) are rare disorders characterized by acute crises of energy metabolism and severe energy deficiency that may present with cardiomyopathy, hypoglycemia, and/or rhabdomyolysis, which can lead to …

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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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