4Berger J,Forss-Petter S,Eichler FS.Pathophysiology of Xlinked adrenoleukodystrophy[J].Biochimie,2014,98:135-142. 被引量:1
5Moser HW.Komrower Lecture.Adrenoleukodystrophy:natural history,treatment and outcome[J].J Inherit Metab Dis,1995,18(4):435-447. 被引量:1
6Niu YF,Ni W,Wu ZY.ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy[J].Gene,2013,522(1):117-120. 被引量:1
7Engelen M,Kemp S,de Visser M,et al.X-linked adrenoleukodystrophy (X-ALD):clinical presentation and guidelines for diagnosis,follow-up and management[J].Orphanet J Rare Dis,2012,7:51. 被引量:1
8Shimozawa N,Honda A,Kajiwara N,et al.X-linked adrenoleukodystrophy:diagnostic and follow-up system in Japan[J].J Hum Genet,2011,56(2):106-109. 被引量:1
9Morita M,Kobayashi J,Yamazaki K,et al.A novel double mutation in the ABCD1 gene in a patient with X-linked adrenoleukodystrophy:analysis of the stability and function of the mutant ABCD1 protein[J].JIMD Rep,2013,10:95-102. 被引量:1