Very long-chain acyl-CoA dehydrogenase deficiency in an infant presenting with massive hepatomegaly.
作者信息
Boles R G
机构信息
Division of Medical Genetics, Childrens Hospital Los Angeles, CA 90027, USA.
出版信息
J Inherit Metab Dis. 2002 Aug;25(4):315-6. doi: 10.1023/a:1016554409214.
PMID:12227461
Abstract
A 9-month-old boy with presented generalised hypotonia, severe cardiomyopathy, and massive liver enlargement following 10 days of viral gastroenteritis. He was diagnosed with very long-chain acyl-CoA dehydrogenase deficiency and has been successfully treated.
摘要
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