A novel ABCD1 gene mutation causes adrenomyeloneuropathy in a Chinese family
Sign Up to like & getrecommendations! Published in 2019 at "Brain and Behavior"
DOI: 10.1002/brb3.1416
Abstract: Adrenomyeloneuropathy (AMN) is a rare genetic disease. In this study, a case of AMN was uncovered in a Chinese family. read more here.
Keywords: chinese family; family; novel abcd1; abcd1 gene ... See more keywords
Novel ABCD1 Variants in X‐Linked Adrenoleukodystrophy
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DOI: 10.1111/cge.14752
Abstract: X‐linked adrenoleukodystrophy (X‐ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene. We reported the clinical features and genetic findings of 17 X‐ALD patients. Fifteen variants were identified, including five novel mutations: c.700dupC… read more here.
Keywords: variants linked; adrenoleukodystrophy; ald; abcd1 variants ... See more keywords
Novel ABCD1 Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease
Sign Up to like & getrecommendations! Published in 2020 at "Endocrinology and Metabolism"
DOI: 10.3803/enm.2020.35.1.188
Abstract: X-linked adrenoleukodystrophy (X-ALD) occurs due to mutations in the ABCD1 gene that encodes the peroxisomal membrane protein peroxisomal transporter ATP-binding cassette sub-family D member 1 (ABCD1). Degradation of very long-chain fatty acids in peroxisomes is… read more here.
Keywords: addison disease; abcd1 gene; adrenoleukodystrophy; linked adrenoleukodystrophy ... See more keywords