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Autor:
Ulrike Och, Anja Seelhöfer, Jana C. Hollenbeck, Melanie Meyer, Jörn Oliver Sass, Mechthild Linden, Stephan Rust, Saskia Biskup, Manfred Fobker, Janine Reunert, Thorsten Marquardt
Publikováno v:
Journal of Inherited Metabolic Disease
J Inherit Metab Dis. 2021;44:1323 – 1329
J Inherit Metab Dis. 2021;44:1323 – 1329
3-Hydroxyisobutyric acid (3HiB) is an intermediate in the degradation of the branched-chain amino acid valine. Disorders in valine degradation can lead to 3HiB accumulation and its excretion in the urine. This article describes the first two patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71fd2e7974eadd060ebd813102a0976f
https://doi.org/10.1002/jimd.12410
https://doi.org/10.1002/jimd.12410
