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Kearns-sayre syndrome with reduced plasma and cerebrospinal fluid folate

dc.contributor.authorAllen, Richard J.en_US
dc.contributor.authorDiMauro, Salvatoreen_US
dc.contributor.authorCoulter, David L.en_US
dc.contributor.authorPapadimitriou, Alexanderen_US
dc.contributor.authorRothenberg, Sheldon P.en_US
dc.date.accessioned2007-04-06T18:49:25Z
dc.date.available2007-04-06T18:49:25Z
dc.date.issued1983-06en_US
dc.identifier.citationAllen, 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.issn0364-5134en_US
dc.identifier.issn1531-8249en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/50301
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=6881930&dopt=citationen_US
dc.description.abstractA 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.extent511630 bytes
dc.format.extent3118 bytes
dc.format.mimetypeapplication/pdf
dc.format.mimetypetext/plain
dc.publisherWiley Subscription Services, Inc., A Wiley Companyen_US
dc.subject.otherLife and Medical Sciencesen_US
dc.subject.otherNeuroscience, Neurology, and Psychiatryen_US
dc.titleKearns-sayre syndrome with reduced plasma and cerebrospinal fluid folateen_US
dc.typeArticleen_US
dc.rights.robotsIndexNoFollowen_US
dc.subject.hlbsecondlevelPsychiatryen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumDepartment of Pediatrics and Neurology, University of Michigan, Ann Arbor, MI 48109 ; Department of Pediatrics and Neurology, University of Michigan, Ann Arbor, MI 48109en_US
dc.contributor.affiliationotherDepartment of Neurology, Columbia University Medical Center, New York, NY 10032en_US
dc.contributor.affiliationotherDepartment of Neurology, University of Texas, Galveston, TX 77550en_US
dc.contributor.affiliationotherDepartment of Neurology, Columbia University Medical Center, New York, NY 10032en_US
dc.contributor.affiliationotherBrooklyn Veterans Administration State University, Downstate Medical Center, New York, NY 10029en_US
dc.identifier.pmid6881930en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/50301/1/410130620_ftp.pdfen_US
dc.identifier.doihttp://dx.doi.org/10.1002/ana.410130620en_US
dc.identifier.sourceAnnals of Neurologyen_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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