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A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of

X-linked adrenoleukodystrophy (X-ALD) is a rare peroxisomal disorder, that is rapidly progressive, neurodegenerative, and recessive, and characteristically primary affects the central nervous system white matter and the adrenal cortex. X-ALD is diagnosed basaed on clinical, radiological, and serolog...

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Autori principali: Hye Jeong Jwa, Keon Su Lee, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim
Natura: Artigo
Lingua:Inglês
Pubblicazione: Korean Pediatric Society 2014-09-01
Serie:Korean Journal of Pediatrics
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Accesso online:http://kjp.or.kr/upload/pdf/kjped-57-416.pdf
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