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Pediatrics, v.134 no.5, 2014년, pp.e1451 - e1457
Wishnew, Jessica (aPediatric Blood and Marrow Transplant Program,) , Page, Kristin (aPediatric Blood and Marrow Transplant Program,) , Wood, Susan (aPediatric Blood and Marrow Transplant Program,) , Galvin, Leo (bDivision of Neuroradiology, and) , Provenzale, James (bDivision of Neuroradiology, and) , Escolar, Maria (cProgram for the Study of Neurodevelopment in Rare Disorders, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania) , Gustafson, Kathryn (dDepartment of Psychiatry and Behavioral Sciences, Duke University Medical Center, Durham, North Carolina) , Kurtzberg, Joanne (and)
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Pelizaeus-Merzbacher Disease (PMD) is a rare X-linked recessive leukodystrophy caused by mutations in the proteolipid protein 1 gene on the Xq22 chromosome. PMD is a dysmyelinating disorder characterized by variable clinical presentation and course. Symptoms range from mild motor deficits to progres...
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