33 Result(s)

Article

Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency

Methylmalonic aciduria (MMA) is an inborn error of metabolism with multiple monogenic causes and a poorly understood pathogenesis, leading to the absence of effective causal treatments. Here we employ multi-la...

Patrick Forny, **mena Bonilla, David Lamparter, Wenguang Shao… in Nature Metabolism (2023)

Article

Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria

Pathogenic variants in MMAB cause cblB-type methylmalonic aciduria, an autosomal-recessive disorder of propionate metabolism. MMAB encodes ATP:cobalamin adenosyltransferase, using ATP and cob(I)alamin to create 5...

Patrick Forny, Tanja Plessl, Caroline Frei, Celine Bürer, D. Sean Froese… in Human Genetics (2022)

Article

Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B₁₂

epi-cblC is a recently discovered inherited disorder of intracellular vitamin B₁₂ metabolism associating hematological, neurological, and cardiometabolic outcomes. It is produced by an epimutation at the promoter...

Abderrahim Oussalah, Youssef Siblini, Sébastien Hergalant… in Clinical Epigenetics (2022)

Article

Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus

Acute intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders and non-acute IT-IEM such as phenylketonuria (PKU) and their treatment have a major impact on the life of affected chil...

Florin Bösch, Nina A. Zeltner, Matthias R. Baumgartner… in Orphanet Journal of Rare Diseases (2022)

Article

Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

E. M. Charlotte Märtner, Eva Thimm, Philipp Guder… in Scientific Reports (2021)

Article

The 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...

E. M. Charlotte Märtner, Eva Thimm, Philipp Guder… in Scientific Reports (2021)

Article

A systematic review of moral reasons on orphan drug reimbursement

The number of market approvals of orphan medicinal products (OMPs) has been increasing steadily in the last 3 decades. While OMPs can offer a unique chance for patients suffering from rare diseases, they are u...

Bettina M. Zimmermann, Johanna Eichinger… in Orphanet Journal of Rare Diseases (2021)

Article

Long-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...

Roland Posset, Sven F. Garbade, Florian Gleich, Andrea L. Gropman… in Scientific Reports (2020)

Article

Author 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.

Alessandro Luciani, Anke Schumann, Marine Berquez, Zhiyong Chen… in Nature Communications (2020)

Article

Impaired 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 ...

Alessandro Luciani, Anke Schumann, Marine Berquez, Zhiyong Chen… in Nature Communications (2020)

Article

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents

Inborn errors of metabolism (IEM) are a group of rare, heterogeneous and complex genetic conditions. Clinically, IEM often affect the central nervous system and other organs. Some carry the risk of progression...

Nina A. Zeltner, Mendy M. Welsink-Karssies… in Orphanet Journal of Rare Diseases (2019)

Article

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias

Due to an unfortunate error during the typesetting process, the collaborators were presented incorrectly.

Jana Heringer, Vassili Valayannopoulos… in Journal of Inherited Metabolic Disease (2018)

Article

Structural 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...

D. Sean Froese, Jolanta Kopec, Elzbieta Rembeza… in Nature Communications (2018)

Article

Publisher 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...

Jean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, Javad Nadaf… in Nature Communications (2018)

Article

A 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”....

Jean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, Javad Nadaf… in Nature Communications (2018)

Article

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Remethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of homocysteine and perturbation of numerous methylation reactions.

Martina Huemer, Daria Diodato, Bernd Schwahn… in Journal of Inherited Metabolic Disease (2017)

Article

Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interest

Johannes Zschocke, Matthias R. Baumgartner… in Journal of Inherited Metabolic Disease (2016)

Article

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks

A call from the EU for the set-up of European Reference Networks (ERNs) is expected to be launched in the first quarter of 2016. ERNs are intended to improve the care for patients with low prevalent or rare di...

Carla E. M. Hollak, Marieke Biegstraaten… in Orphanet Journal of Rare Diseases (2016)

Article

Peer review fraud—it’s not big and it’s not clever

Shamima Rahman, Matthias R. Baumgartner… in Journal of Inherited Metabolic Disease (2016)

Article

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Stefan Kölker, Angeles Garcia Cazorla… in Journal of Inherited Metabolic Disease (2015)