11 Result(s)

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

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

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

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)

Article

Quo vadis: the re-definition of “inborn metabolic diseases”

Eva Morava, Shamima Rahman, Verena Peters… in Journal of Inherited Metabolic Disease (2015)

Article

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Stefan Kölker, Vassili Valayannopoulos… in Journal of Inherited Metabolic Disease (2015)

Article

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

Newborn screening (NBS) is justified if early intervention is effective in a disorder generally not detected early in life on a clinical basis, and if sensitive and specific biochemical markers exist. Experien...

Martina Huemer, Viktor Kožich, Piero Rinaldo… in Journal of Inherited Metabolic Disease (2015)

Article

Complex lipids

Jean-Marie Saudubray, Matthias R. Baumgartner… in Journal of Inherited Metabolic Disease (2015)

Article

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

Urea cycle disorders (UCDs) are inherited disorders of ammonia detoxification often regarded as mainly of relevance to pediatricians. Based on an increasing number of case studies it has become obvious that a ...

Corinne M. Rüegger, Martin Lindner… in Journal of Inherited Metabolic Disease (2014)