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Myopathy in an infant with a fatal peroxisomal disorder

dc.contributor.authorWolff, Jon A.en_US
dc.contributor.authorNyhan, William L.en_US
dc.contributor.authorPowell, Henryen_US
dc.contributor.authorTakahashi, Donnaen_US
dc.contributor.authorHutzler, Joelen_US
dc.contributor.authorHajra, Amiya K.en_US
dc.contributor.authorDatta, Nabanita S.en_US
dc.contributor.authorSingh, Inderjiten_US
dc.contributor.authorMoser, Hugo W.en_US
dc.date.accessioned2006-04-07T19:31:06Z
dc.date.available2006-04-07T19:31:06Z
dc.date.issued1986en_US
dc.identifier.citationWolff, Jon, Nyhan, William L., Powell, Henry, Takahashi, Donna, Hutzler, Joel, Hajra, Amiya K., Datta, Nabanita S., Singh, Inderjit, Moser, Hugo W. (1986)."Myopathy in an infant with a fatal peroxisomal disorder." Pediatric Neurology 2(3): 141-146. <http://hdl.handle.net/2027.42/26173>en_US
dc.identifier.urihttp://www.sciencedirect.com/science/article/B6TBD-4859SCS-23/2/e324778b5c86f09d836402162bd2ef20en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/26173
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=3508688&dopt=citationen_US
dc.description.abstractAn infant with neonatal adrenoleukodystrophy experienced extreme hypotonia and virtually continuous convulsions at four months of age and died. Light and electron microscopic examination revealed evidence of myopathy and the presence of mitochondrial inclusions. Concentrations of very long-chain fatty acids were elevated in blood and fibroblasts and the oxidation of 14C-labeled fatty acids was defective. Urinary pipecolic acid content was increased. Activity of the peroxisomal dihydroxyacetone phosphate acyltransferase, which catalyzes the first step in plasmalogen synthesis, was decreased.en_US
dc.format.extent694483 bytes
dc.format.extent3118 bytes
dc.format.mimetypeapplication/pdf
dc.format.mimetypetext/plain
dc.language.isoen_US
dc.publisherElsevieren_US
dc.titleMyopathy in an infant with a fatal peroxisomal disorderen_US
dc.typeArticleen_US
dc.rights.robotsIndexNoFollowen_US
dc.subject.hlbsecondlevelPublic Healthen_US
dc.subject.hlbsecondlevelPediatricsen_US
dc.subject.hlbsecondlevelNeurosciencesen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumDepartment of Biological Chemistry; University of Michigan;, Ann Arbor, MI, USA.en_US
dc.contributor.affiliationumDepartment of Biological Chemistry; University of Michigan;, Ann Arbor, MI, USA.en_US
dc.contributor.affiliationotherDepartment of Pediatrics; University of California San Diego;, La Jolla, CA, USA.en_US
dc.contributor.affiliationotherDepartment of Pediatrics; University of California San Diego;, La Jolla, CA, USA.en_US
dc.contributor.affiliationotherDepartment of Pathology; University of California San Diego;, La Jolla, CA, USA.en_US
dc.contributor.affiliationotherJohn F. Kennedy Institute;, Baltimore, Maryland, USA; Department of Pediatrics; Al-Hada Hospital;, Taif, Saudi Arabia.en_US
dc.contributor.affiliationotherDepartment of Pediatrics; New York University School of Medicine;, New York, NY, USA.en_US
dc.contributor.affiliationotherJohn F. Kennedy Institute for Handicapped Children; Departments of Neurology and Pediatrics, The Johns Hopkins Medical Institution;, Baltimore, MD, USA.en_US
dc.contributor.affiliationotherJohn F. Kennedy Institute for Handicapped Children; Departments of Neurology and Pediatrics, The Johns Hopkins Medical Institution;, Baltimore, MD, USA.en_US
dc.identifier.pmid3508688en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/26173/1/0000252.pdfen_US
dc.identifier.doihttp://dx.doi.org/10.1016/0887-8994(86)90004-4en_US
dc.identifier.sourcePediatric Neurologyen_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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