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

Contopoulos-Ioannidis, D./ Evangeliou, A./ ter Laak, H./ de Vries, B./ Pfundt, R./ Scheffer, H./ Smeitink, J./ Tzoufi, M./ Makis, A./ Marinos, E./ Hess, R./ Adams, D./ Huizing, M./ Morava, E.

Institution and School/Department of submitter: Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής
Keywords: Adolescent,Albinism, Oculocutaneous/complications/*diagnosis/pathology,Female,Genetic Predisposition to Disease,Humans,Malignant Hyperthermia/genetics,Phenotype,Platelet Storage Pool Deficiency/complications/*diagnosis/pathology,Recurrence,Rhabdomyolysis/complications/*diagnosis/pathology
URI: https://olympias.lib.uoi.gr/jspui/handle/123456789/18742
ISSN: 1552-4833
Link: http://www.ncbi.nlm.nih.gov/pubmed/19006216
http://onlinelibrary.wiley.com/store/10.1002/ajmg.a.32569/asset/32569_ftp.pdf?v=1&t=h0bwugm4&s=979f6a003be19edf4359bc786de1569cca31b7e9
Appears in Collections:Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά)

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