Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis
About this item
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Publisher
Oxford, UK: Blackwell Publishing Ltd
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Language
English
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Publisher
Oxford, UK: Blackwell Publishing Ltd
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Scope and Contents
Contents
Aim To describe the phenotype and genotype of pyruvate dehydrogenase complex (PDHc) deficiency.
Method Twenty‐two participants with enzymologically and genetically confirmed PDHc deficiency were analysed for clinical and imaging features over a 15‐year period.
Results Four groups were identified: (1) those with neonatal encephalopathy with...
Alternative Titles
Full title
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis
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TN_cdi_proquest_miscellaneous_733909029
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_733909029
Other Identifiers
ISSN
0012-1622
E-ISSN
1469-8749
DOI
10.1111/j.1469-8749.2009.03541.x
