3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients
3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients
About this item
Full title
Author / Creator
Wortmann, Saskia B. , Kluijtmans, Leo A. J. , Rodenburg, Richard J. , Sass, Jörn Oliver , Nouws, Jessica , van Kaauwen, Edwin P. , Kleefstra, Tjitske , Tranebjaerg, Lisbeth , de Vries, Maaike C. , Isohanni, Pirjo , Walter, Katharina , Alkuraya, Fowzan S. , Smuts, Izelle , Reinecke, Carolus J. , van der Westhuizen, Francois H. , Thorburn, David , Smeitink, Jan A. M. , Morava, Eva and Wevers, Ron A.
Publisher
Dordrecht: Springer Netherlands
Journal title
Language
English
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Publication information
Publisher
Dordrecht: Springer Netherlands
Subjects
More information
Scope and Contents
Contents
Elevated urinary excretion of 3-methylglutaconic acid is considered rare in patients suspected of a metabolic disorder. In 3-methylglutaconyl-CoA hydratase deficiency (mutations in
AUH
), it derives from leucine degradation. In all other disorders with 3-methylglutaconic aciduria the origin is unknown, yet mitochondrial dysfunction is thought...
Alternative Titles
Full title
3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients
Authors, Artists and Contributors
Author / Creator
Kluijtmans, Leo A. J.
Rodenburg, Richard J.
Sass, Jörn Oliver
Nouws, Jessica
van Kaauwen, Edwin P.
Kleefstra, Tjitske
Tranebjaerg, Lisbeth
de Vries, Maaike C.
Isohanni, Pirjo
Walter, Katharina
Alkuraya, Fowzan S.
Smuts, Izelle
Reinecke, Carolus J.
van der Westhuizen, Francois H.
Thorburn, David
Smeitink, Jan A. M.
Morava, Eva
Wevers, Ron A.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1534840165
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1534840165
Other Identifiers
ISSN
0141-8955
E-ISSN
1573-2665
DOI
10.1007/s10545-012-9579-6
