A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1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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Detalles Bibliográficos
Autores principales: Jwa, Hye Jeong, Lee, Keon Su, Kim, Gu Hwan, Yoo, Han Wook, Lim, Han Hyuk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4198957/
https://www.ncbi.nlm.nih.gov/pubmed/25324868
http://dx.doi.org/10.3345/kjp.2014.57.9.416

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4198957/
https://www.ncbi.nlm.nih.gov/pubmed/25324868
http://dx.doi.org/10.3345/kjp.2014.57.9.416

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