| 4-Hydroxybutyric aciduria associated with catheter usage: a diagnostic pitfall in the identification of SSADH deficiency. | |
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MedLine Citation:
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PMID: 20965758 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Succinic semialdehyde dehydrogenase deficiency is a slowly progressive to static neurological disorder featuring elevated concentrations of 4-hydroxybutyric acid in body fluids. We present two patients with elevated 4-hydroxybutyric acid in urine which was later shown to be linked to catheter usage. |
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Authors:
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M M C Wamelink; B Roos; E E W Jansen; M F Mulder; K M Gibson; C Jakobs |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2010-10-07 |
Journal Detail:
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Title: Molecular genetics and metabolism Volume: 102 ISSN: 1096-7206 ISO Abbreviation: Mol. Genet. Metab. Publication Date: 2011 Feb |
Date Detail:
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Created Date: 2011-01-18 Completed Date: 2011-10-24 Revised Date: 2011-10-25 |
Medline Journal Info:
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Nlm Unique ID: 9805456 Medline TA: Mol Genet Metab Country: United States |
Other Details:
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Languages: eng Pagination: 216-7 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 Elsevier Inc. All rights reserved. |
Affiliation:
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VU University Medical Center, Department of Clinical Chemistry, Metabolic Unit, Amsterdam, The Netherlands. m.wamelink@vumc.nl |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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4-Butyrolactone
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urine Amino Acid Metabolism, Inborn Errors / diagnosis*, enzymology Catheters* / standards Female Humans Hydroxybutyrates / blood, urine* Infant Infant, Newborn Maple Syrup Urine Disease / diagnosis, enzymology Succinate-Semialdehyde Dehydrogenase / deficiency |
| Grant Support | |
ID/Acronym/Agency:
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R01 HD058553-03/HD/NICHD NIH HHS; R01 HD058553-04/HD/NICHD NIH HHS; R01 HD058553-05/HD/NICHD NIH HHS; R01 NS040270-07/NS/NINDS NIH HHS; R01 NS040270-09/NS/NINDS NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Hydroxybutyrates; 591-81-1/4-hydroxybutyric acid; 96-48-0/4-Butyrolactone; EC 1.2.1.24/Succinate-Semialdehyde Dehydrogenase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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