Severe early onset ethylmalonic encephalopathy with West syndrome
Severe early onset ethylmalonic encephalopathy with West syndrome
About this item
Full title
Author / Creator
Publisher
New York: Springer US
Journal title
Language
English
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Publication information
Publisher
New York: Springer US
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More information
Scope and Contents
Contents
Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder characterized by early onset encephalopathy, chronic diarrhoea, petechiae, orthostatic acrocyanosis and defective cytochrome c oxidase (COX) in muscle and brain. High levels of lactic, ethylmalonic and methylsuccinic acids are detected in body fluids. EE is caused by mutations...
Alternative Titles
Full title
Severe early onset ethylmalonic encephalopathy with West syndrome
Authors, Artists and Contributors
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Record Identifier
TN_cdi_proquest_miscellaneous_1733189083
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1733189083
Other Identifiers
ISSN
0885-7490
E-ISSN
1573-7365
DOI
10.1007/s11011-015-9707-8
