Myopathy in an infant with a fatal peroxisomal disorder
dc.contributor.author | Wolff, Jon A. | en_US |
dc.contributor.author | Nyhan, William L. | en_US |
dc.contributor.author | Powell, Henry | en_US |
dc.contributor.author | Takahashi, Donna | en_US |
dc.contributor.author | Hutzler, Joel | en_US |
dc.contributor.author | Hajra, Amiya K. | en_US |
dc.contributor.author | Datta, Nabanita S. | en_US |
dc.contributor.author | Singh, Inderjit | en_US |
dc.contributor.author | Moser, Hugo W. | en_US |
dc.date.accessioned | 2006-04-07T19:31:06Z | |
dc.date.available | 2006-04-07T19:31:06Z | |
dc.date.issued | 1986 | en_US |
dc.identifier.citation | Wolff, 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.uri | http://www.sciencedirect.com/science/article/B6TBD-4859SCS-23/2/e324778b5c86f09d836402162bd2ef20 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/26173 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=3508688&dopt=citation | en_US |
dc.description.abstract | An 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.extent | 694483 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Elsevier | en_US |
dc.title | Myopathy in an infant with a fatal peroxisomal disorder | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Public Health | en_US |
dc.subject.hlbsecondlevel | Pediatrics | en_US |
dc.subject.hlbsecondlevel | Neurosciences | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Biological Chemistry; University of Michigan;, Ann Arbor, MI, USA. | en_US |
dc.contributor.affiliationum | Department of Biological Chemistry; University of Michigan;, Ann Arbor, MI, USA. | en_US |
dc.contributor.affiliationother | Department of Pediatrics; University of California San Diego;, La Jolla, CA, USA. | en_US |
dc.contributor.affiliationother | Department of Pediatrics; University of California San Diego;, La Jolla, CA, USA. | en_US |
dc.contributor.affiliationother | Department of Pathology; University of California San Diego;, La Jolla, CA, USA. | en_US |
dc.contributor.affiliationother | John F. Kennedy Institute;, Baltimore, Maryland, USA; Department of Pediatrics; Al-Hada Hospital;, Taif, Saudi Arabia. | en_US |
dc.contributor.affiliationother | Department of Pediatrics; New York University School of Medicine;, New York, NY, USA. | en_US |
dc.contributor.affiliationother | John F. Kennedy Institute for Handicapped Children; Departments of Neurology and Pediatrics, The Johns Hopkins Medical Institution;, Baltimore, MD, USA. | en_US |
dc.contributor.affiliationother | John F. Kennedy Institute for Handicapped Children; Departments of Neurology and Pediatrics, The Johns Hopkins Medical Institution;, Baltimore, MD, USA. | en_US |
dc.identifier.pmid | 3508688 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/26173/1/0000252.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1016/0887-8994(86)90004-4 | en_US |
dc.identifier.source | Pediatric Neurology | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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