8 Result(s)
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Article
Matthias R Baumgartner
Science, multidisciplinary
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Article
Open AccessPublisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
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Article
Open AccessThe biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
The aim of the study was a systematic evaluation of cognitive development in individuals with glutaric aciduria type 1 (GA1), a rare neurometabolic disorder, identified by newborn screening in Germany. This na...
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Article
Open AccessLong-term effects of medical management on growth and weight in individuals with urea cycle disorders
Low protein diet and sodium or glycerol phenylbutyrate, two pillars of recommended long-term therapy of individuals with urea cycle disorders (UCDs), involve the risk of iatrogenic growth failure. Limited evid...
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Article
Open AccessAuthor Correction: Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Article
Open AccessImpaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency
Deregulation of mitochondrial network in terminally differentiated cells contributes to a broad spectrum of disorders. Methylmalonic acidemia (MMA) is one of the most common inherited metabolic disorders, due ...
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Article
Open AccessStructural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition
The folate and methionine cycles are crucial for biosynthesis of lipids, nucleotides and proteins, and production of the methyl donor S-adenosylmethionine (SAM). 5,10-methylenetetrahydrofolate reductase (MTHFR...
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Article
Open AccessPublisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
The original version of this Article contained an error in the title, which was incorrectly given as 'APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients'. This has now been corrected in b...
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Article
Open AccessA PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
To date, epimutations reported in man have been somatic and erased in germlines. Here, we identify a cause of the autosomal recessive cblC class of inborn errors of vitamin B12 metabolism that we name “epi-cblC”....
