| Clinical, biochemical, and morphologic investigations of a case of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. | |
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MedLine Citation:
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PMID: 9240910 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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R H Amirkhan; C F Timmons; K O Brown; M J Weinberger; M J Bennett |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Archives of pathology & laboratory medicine Volume: 121 ISSN: 0003-9985 ISO Abbreviation: Arch. Pathol. Lab. Med. Publication Date: 1997 Jul |
Date Detail:
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Created Date: 1997-08-25 Completed Date: 1997-08-25 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7607091 Medline TA: Arch Pathol Lab Med Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 730-4 Citation Subset: AIM; IM |
Affiliation:
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Department of Pathology, University of Texas Southwestern Medical Center, Dallas 75235, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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3-Hydroxyacyl CoA Dehydrogenases
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deficiency* Anemia, Hemolytic / etiology Female Humans Hypoglycemia / metabolism, pathology Infant Liver / ultrastructure Liver Failure / etiology, pathology |
| Chemical | |
Reg. No./Substance:
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EC 1.1.1.211/long-chain 3-hydroxyacyl CoA dehydrogenase; EC 1.1.1.35/3-Hydroxyacyl CoA Dehydrogenases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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