ADRENOMYELONEUROPATHY

作品数：5被引量：2H指数：1
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Clinical and genetic characteristics of adrenomyeloneuropathy
《China Medical Abstracts(Internal Medicine)》2023年第2期127-127,共1页刘桃桃 
Objective To summarize and analyze the clinical and genetic characteristics of Chinese patients with adrenomyeloneuropathy(AMN).Methods Clinical data were collected and analyzed retrospectively on AMN patients who wer...
关键词：NEUROPATHY CLINICAL PATIENTS 
A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review
《Genes & Diseases》2021年第5期709-714,共6页Yu Zhang Guoyong Zhang Wenhui Chen Zheng Pu Lu Song Xinghua Tang Zhenguo Liu 
The study was supported by the National key R&D Program of China[grant numbers 2017YFC1310300,2016YFC1306600];the National Natural Science Foun-dation of China[grant numbers 81301081,81601127]。
Adrenomyeloneuropathy(AMN)is a kind of varied disease caused by ABCD1 gene mutation and characterized by very-long-chain fatty acids(VLCFA)accumulation.It is diag-nosed by clinical features,high VLCFAs levels and ABCD...
关键词：ABCD1gene Adrenomyel-oneuropathy China MUTATION Very-long-chain fatty acids 
Deciphering the modifiers for phenotypic variability of X-linked adrenoleukodystrophy被引量：2
《World Journal of Biological Chemistry》2020年第3期99-111,共13页Shruti V Palakuzhiyil Rita Christopher Sadanandavalli Retnaswami Chandra 
Supported by Department of Biotechnology,New Delhi,India.No.BT/PR26150/MED/12/768/2017.
X-linked adrenoleukodystrophy(X-ALD),an inborn error of peroxisomalβ-oxidation,is caused by defects in the ATP Binding Cassette Subfamily D Member 1(ABCD1)gene.X-ALD patients may be asymptomatic or present with sever...
关键词：X-adrenoleukodystrophy Cerebral adrenoleukodystrophy ADRENOMYELONEUROPATHY Phenotypic variation MODIFIERS 
Adrenal Insufficiency by Adrenoleukodystrophy
《Health》2020年第1期1-13,共13页Elda Cristinne Mattos Botelho Eduardo Romero Sampaio Botelho Luciana Correa de Souza Rodrigues Tatiana Prado Wanderley Fernanda Navarini Queiroz Pollyana Cirino Gomes Borges Sabrina Arrais Rolim Aragao Ximenes Cruz Janete Pacheco da Silva Larissa Bianca Cunha de Sa Alberto Krayyem Arbex 
The X-linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disorder due to mutations in the ABCD1 gene. Objective: To report a case of a 19-year-old man with adrenal insufficiency due to adrenoleukodystroph...
关键词：ADRENOLEUKODYSTROPHY ADRENOMYELONEUROPATHY Adrenal Insufficiency Addison’s Disease 
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