| Methylmalonic aciduria (cblF): case report and response to therapy. | |
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MedLine Citation:
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PMID: 9779804 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Methylmalonic acidemia can be secondary to a deficiency of methylmalonyl CoA mutase or to a defect of cobalamin metabolism that is classified by complementation group. We report on a new patient with cblF complementation group that is associated with an elevation of both methylmalonic acid and homocysteine, and her outcome in response to routine therapy and a dietary restriction. |
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Authors:
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D J Waggoner; K Ueda; C Mantia; S B Dowton |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: American journal of medical genetics Volume: 79 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1998 Oct |
Date Detail:
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Created Date: 1999-06-02 Completed Date: 1999-06-02 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 373-5 Citation Subset: IM |
Affiliation:
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Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA. waggonervd@a1.kids.wustl.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Amino Acid Metabolism, Inborn Errors / pathology, therapy Female Humans Methylmalonic Acid / urine* Propionates / metabolism Vitamin B 12 / metabolism |
| Chemical | |
Reg. No./Substance:
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0/Propionates; 516-05-2/Methylmalonic Acid; 68-19-9/Vitamin B 12 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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