Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 4 (of 4 Records) |
Query Trace: Adrenomyeloneuropathy[original query] |
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[Clinical features and genotype-phenotype studies of 89 Chinese patients with X-linked adrenoleukodystrophy]. Zhonghua er ke za zhi. Chinese journal of pediatrics 2007 Mar 45 (3): 203-7. Ping Li-li, Bao Xin-hua, Wang Ai-hua, Pan Hong, Wu Ye, Xiong Hui, Jiang Yu-wu, Qin Jiong, Wu Xi- |
Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes. Neurogenetics 2011 Feb 12 (1): 41-50. Matsukawa Takashi, Asheuer Muriel, Takahashi Yuji, Goto Jun, Suzuki Yasuyuki, Shimozawa Nobuyuki, Takano Hiroki, Onodera Osamu, Nishizawa Masatoyo, Aubourg Patrick, Tsuji Sho |
CD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy. PloS one 2012 7 (1): e29872. Barbier Mathieu, Sabbagh Audrey, Kasper Edwige, Asheuer Muriel, Ahouansou Ornella, Pribill Ingrid, Forss-Petter Sonja, Vidaud Michel, Berger Johannes, Aubourg Patri |
Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype. Parkinsonism & related disorders 2021 10 92 7-12. Hsu Shao-Lun, Chen Ying-Hao, Chou Cheng-Ta, Chou Ying-Tsen, Tsai Yu-Shuen, Hsiao Cheng-Tsung, Liao Yi-Chu, Lee Yi-Chu |
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