An Incidentally Identified Sporadic Case with Adrenoleukodystrophy with the ABCD1 Mutation
Author:
Affiliation:
1. Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
2. Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
Publisher
Korean Society of Medical Genetics
Subject
General Medicine
Link
http://pdf.medrang.co.kr/JGM/2013/010/KSMGG6_2013_v10n1_43.pdf
Reference20 articles.
1. Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells.
2. Feigenbaum V, Lombard-Platet G, Guidoux S, Sarde CO, Mandel JL, Aubourg P. Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy. Am J Hum Genet 1996;58:1135-1144.
3. X-linked adrenoleukodystrophy: Clinical, biochemical and pathogenetic aspects
4. Kang SY, Yum MS, Choi HW, Lee EH, Ko TS, Yoo HW. Clinical Manifestations of Leukodystrophies: A Single Center Study. J Korean Child Neurol Soc 2011;19:115-123.
5. Childhood X-linked Adrenoleukodystrophy: Clinical-Pathologic Overview and MR Imaging Manifestations at Initial Evaluation and Follow-up
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