Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency

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dc.contributor.authorContopoulos-Ioannidis, D.en
dc.contributor.authorEvangeliou, A.en
dc.contributor.authorter Laak, H.en
dc.contributor.authorde Vries, B.en
dc.contributor.authorPfundt, R.en
dc.contributor.authorScheffer, H.en
dc.contributor.authorSmeitink, J.en
dc.contributor.authorTzoufi, M.en
dc.contributor.authorMakis, A.en
dc.contributor.authorMarinos, E.en
dc.contributor.authorHess, R.en
dc.contributor.authorAdams, D.en
dc.contributor.authorHuizing, M.en
dc.contributor.authorMorava, E.en
dc.date.accessioned2015-11-24T18:54:47Z
dc.date.available2015-11-24T18:54:47Z
dc.identifier.issn1552-4833-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/18742
dc.rightsDefault Licence-
dc.subjectAdolescenten
dc.subjectAlbinism, Oculocutaneous/complications/*diagnosis/pathologyen
dc.subjectFemaleen
dc.subjectGenetic Predisposition to Diseaseen
dc.subjectHumansen
dc.subjectMalignant Hyperthermia/geneticsen
dc.subjectPhenotypeen
dc.subjectPlatelet Storage Pool Deficiency/complications/*diagnosis/pathologyen
dc.subjectRecurrenceen
dc.subjectRhabdomyolysis/complications/*diagnosis/pathologyen
dc.titleRecurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiencyen
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.primary10.1002/ajmg.a.32569-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/19006216-
heal.identifier.secondaryhttp://onlinelibrary.wiley.com/store/10.1002/ajmg.a.32569/asset/32569_ftp.pdf?v=1&t=h0bwugm4&s=979f6a003be19edf4359bc786de1569cca31b7e9-
heal.journalNameAm J Med Genet Aen
heal.journalTypepeer-reviewed-
heal.languageen-
heal.publicationDate2008-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

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