Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a youn...
Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II
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Author / Creator
Xue, Ying , Zhou, Yun , Zhang, Keqin , Li, Ling , Kayoumu, Abudurexiti , Chen, Liye , Wang, Yuhui and Lu, Zhiqiang
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
Glutaric aciduria type II (GA II) is an autosomal recessive disorder affecting fatty acid and amino acid metabolism. The late-onset form of GA II disorder is almost exclusively associated with mutations in the electron transfer flavoprotein dehydrogenase (ETFDH) gene. Till now, the clinical features of late-onset GA II vary widely and pose a great...
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Full title
Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_6c264f1ba7d440d49da763ff6b78c169
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_6c264f1ba7d440d49da763ff6b78c169
Other Identifiers
ISSN
1476-511X
E-ISSN
1476-511X
DOI
10.1186/s12944-017-0576-5
