Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency
Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency
About this item
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Publisher
Dordrecht: Springer Netherlands
Journal title
Language
English
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Publisher
Dordrecht: Springer Netherlands
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Contents
Summary
The pyruvate dehydrogenase (PDH) complex is a mitochondrial multienzyme that catalyses the irreversible oxidative decarboxylation of pyruvate to acetyl-CoA. We report four novel
PDHA1
mutations in patients with pyruvate dehydrogenase deficiency. Analysis of PDH activity showed decreased activity in fibroblasts from all four patient...
Alternative Titles
Full title
Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency
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TN_cdi_proquest_journals_1426262255
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1426262255
Other Identifiers
ISSN
0141-8955
E-ISSN
1573-2665
DOI
10.1007/s10545-009-1179-8
