hrp0086rfc1.4 | Adrenals | ESPE2016
Vu Dung
, Nguyen Ngoc Khanh
, Nguyen Thu Ha
, Bui Phuong Thao
, Can Thi Bich Ngoc
, Nguyen Phu Dat
, Shimozawa Nobuyuki
Background: X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. This disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency.Objective and hypotheses: To identify mutations of gene ABCD1 in Vietnamese patients with X-ALD.</...