Kearns-sayre syndrome with reduced plasma and cerebrospinal fluid folate
dc.contributor.author | Allen, Richard J. | en_US |
dc.contributor.author | DiMauro, Salvatore | en_US |
dc.contributor.author | Coulter, David L. | en_US |
dc.contributor.author | Papadimitriou, Alexander | en_US |
dc.contributor.author | Rothenberg, Sheldon P. | en_US |
dc.date.accessioned | 2007-04-06T18:49:25Z | |
dc.date.available | 2007-04-06T18:49:25Z | |
dc.date.issued | 1983-06 | en_US |
dc.identifier.citation | Allen, Richard J.; DiMauro, Salvatore; Coulter, David L.; Papadimitriou, Alexander; Rothenberg, Sheldon P. (1983)."Kearns-sayre syndrome with reduced plasma and cerebrospinal fluid folate." Annals of Neurology 13(6): 679-682. <http://hdl.handle.net/2027.42/50301> | en_US |
dc.identifier.issn | 0364-5134 | en_US |
dc.identifier.issn | 1531-8249 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/50301 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=6881930&dopt=citation | en_US |
dc.description.abstract | A young woman with Kearns-Sayre syndrome and progressive central nervous system deterioration over 15 years had decreased plasma and cerebrospinal fluid folate levels while receiving phenytoin for a seizure disorder. A muscle biopsy showed a “ragged red fiber” myopathy with reduced muscle carnitine and mitochondrial enzymes. Computed tomographic brain scans showed cerebral white matter hypodensities and bilateral calcification of the basal ganglia. The mechanism for the folate deficiency and altered ratio of plasma to cerebrospinal fluid folate is unknown, but the deficiency may be responsive to replacement therapy. | en_US |
dc.format.extent | 511630 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Neuroscience, Neurology, and Psychiatry | en_US |
dc.title | Kearns-sayre syndrome with reduced plasma and cerebrospinal fluid folate | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Psychiatry | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Pediatrics and Neurology, University of Michigan, Ann Arbor, MI 48109 ; Department of Pediatrics and Neurology, University of Michigan, Ann Arbor, MI 48109 | en_US |
dc.contributor.affiliationother | Department of Neurology, Columbia University Medical Center, New York, NY 10032 | en_US |
dc.contributor.affiliationother | Department of Neurology, University of Texas, Galveston, TX 77550 | en_US |
dc.contributor.affiliationother | Department of Neurology, Columbia University Medical Center, New York, NY 10032 | en_US |
dc.contributor.affiliationother | Brooklyn Veterans Administration State University, Downstate Medical Center, New York, NY 10029 | en_US |
dc.identifier.pmid | 6881930 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/50301/1/410130620_ftp.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1002/ana.410130620 | en_US |
dc.identifier.source | Annals of Neurology | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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