Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002878 (hemolytic anemia)
7,530 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the premortem and postmortem morphologic and histologic features and biochemical findings of a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase (L-CHAD) deficiency and compare these with those described in previously reported cases of L-CHAD deficiency. In addition to chronic nonketotic hypoglycemia, hypotonia, and liver failure, this patient had chronic hemolytic anemia and delayed central nervous system myelination. These features have not been previously documented in L-CHAD deficiency.
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PMID:Clinical, biochemical, and morphologic investigations of a case of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. 924 Sep 10