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  1. Article

    Open Access

    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)

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  2. Article

    Open Access

    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)

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  3. No Access

    Chapter

    Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents

    Introduction: Progress in diagnosis and treatment of patients with intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders, organic acidurias or maple syrup urine disease is resulting...

    Nina A. Zeltner, Markus A. Landolt, Matthias R. Baumgartner… in JIMD Reports, Volume 31 (2017)

  4. No Access

    Chapter

    Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism

    Introduction: This study is part of the “European network and registry for intoxication type metabolic diseases” (E-IMD) project. Intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle...

    Nina A. Zeltner, Matthias R. Baumgartner, Aljona Bondarenko… in JIMD Reports, Volume 37 (2017)

  5. No Access

    Chapter

    Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium

    Background: Patients with organic acidurias (OAD) and urea cycle disorders (UCD) are at increased risk of disability, impaired quality of life and reduced life expectancy. Clinical care in any one ...

    Stefan Kölker, Dries Dobbelaere, Johannes Häberle, Peter Burgard… in JIMD Reports, Volume 22 (2015)

  6. No Access

    Article

    Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

    Brian Fowler, David Rosenblatt and colleagues show that mutations in the ABC transporter gene ABCD4 cause a new inborn error of vitamin B12 metabolism. ABCD4 colocalizes with the lysosomal proteins LAMP1 and LMBD...

    David Coelho, Jaeseung C Kim, Isabelle R Miousse, Stephen Fung… in Nature Genetics (2012)