Screening for carrier and prenatal diagnosis of X-linked adrenoleukodystrophy

Screening for carrier and prenatal diagnosis of X-linked adrenoleukodystrophy

OBJECTIVE: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder characterized by progressive demyelination of the central nervous system, adrenal cortex insufficiency and accumulation of saturated very long chain fatty acids (VLCFAs) in tissues and body fluids due to the imp...

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Bibliographische Detailangaben
Veröffentlicht in:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 43(2005), 5 vom: 30. Mai, Seite 345-9
1. Verfasser: Wang, Ai-hua (VerfasserIn)
Weitere Verfasser: Bao, Xin-hua, Xiong, Hui, Pan, Hong, Wu, Ye, Zhang, Yue-hua, Shi, Chun-yan, Qin, Jiong, Wu, Xi-ru
Format: Aufsatz
Sprache:Chinese
Veröffentlicht: 2005
Zugriff auf das übergeordnete Werk:Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:Journal Article Research Support, Non-U.S. Gov't ABCD1 protein, human ATP Binding Cassette Transporter, Subfamily D, Member 1 ATP-Binding Cassette Transporters Fatty Acids