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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

20.06.2018 | Original Article

Long-term evaluation of urinary copper excretion and non-caeruloplasmin associated copper in Wilson disease patients under medical treatment

Wilson disease (WD) is an autosomal recessive disorder characterized by copper accumulation. The global prevalence of the disease is about 1 in 30,000 (Bandmann et al. 2015 ; Park et al. 1991 ). The accumulating copper causes damage primarily to …

20.06.2018 | Glycogen Storage Disease

Manifesting heterozygotes in McArdle disease: a myth or a reality—role of statins

McArdle disease is an autosomal recessive condition caused by deficiency of the PYGM gene-encoded muscle isoform of glycogen phosphorylase. Some cases of “manifesting” heterozygotes or carriers (i.e., patients who show some McArdle-like symptoms …

15.06.2018 | Original Article

Newborn screening for homocystinurias: recent recommendations versus current practice

Homocystinurias are rare genetic diseases caused by deficient activity of enzymes involved in the metabolism of sulfur amino acids or of the related B vitamins. Although these diseases are aetiologically and clinically heterogeneous, they share …

13.06.2018 | Review Open Access

Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms

Movement disorders comprise a group of heterogeneous diseases with often complex clinical phenotypes. Overlapping symptoms and a lack of diagnostic biomarkers may hamper making a definitive diagnosis. Next-generation sequencing techniques have …

08.06.2018 | Letter to the Editors

Oxygen in mitochondrial disease: can there be too much of a good thing?

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Impact Factor: 3.365 (2014)

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Time to first decision: 27 days

Time from acceptance to online publication: 28 days

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