A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1

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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Bibliographic Details
Main Authors: Jwa, Hye Jeong, Lee, Keon Su, Kim, Gu Hwan, Yoo, Han Wook, Lim, Han Hyuk
Format: Artigo
Language:Inglês
Published: The Korean Pediatric Society 2014
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4198957/
https://ncbi.nlm.nih.gov/pubmed/25324868
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2014.57.9.416
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