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Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut

Introduction - Long-term outcome is postulated to be different in isolated methylmalonic aciduria caused by mutations in the MMAA gene (cblA type) compared with methylmalonyl-CoA mutase deficiency (mut), but case definition was previously difficult.

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Bibliographic Details
Main Authors: Hörster, Friederike (Author) , Tuncel, Ali Tunç (Author) , Gleich, Florian (Author) , Plessl, Tanja (Author) , Froese, Sean D. (Author) , Garbade, Sven (Author) , Kölker, Stefan (Author) , Baumgartner, Matthias R. (Author)
Format: Article (Journal)
Language:English
Published: 2021
In: Journal of inherited metabolic disease
Year: 2021, Volume: 44, Issue: 1, Pages: 193-214
ISSN:1573-2665
DOI:10.1002/jimd.12297
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1002/jimd.12297
Verlag, kostenfrei, Volltext: https://onlinelibrary.wiley.com/doi/10.1002/jimd.12297
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Author Notes:Friederike Hörster, Ali Tunç Tuncel, Florian Gleich, Tanja Plessl, Sean D. Froese, Sven F. Garbade, Stefan Kölker, Matthias R. Baumgartner
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Summary:Introduction - Long-term outcome is postulated to be different in isolated methylmalonic aciduria caused by mutations in the MMAA gene (cblA type) compared with methylmalonyl-CoA mutase deficiency (mut), but case definition was previously difficult.
Item Description:First published: 05 August 2020
Gesehen am 13.12.2021
Physical Description:Online Resource
ISSN:1573-2665
DOI:10.1002/jimd.12297

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