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
A novel missense mutation in the ABCD1 gene of a Chinese boy diagnosed with X-linked adrenoleukodystrophy: case report
Sign Up to like & getrecommendations! Published in 2018 at "Neurological Sciences"
DOI: 10.1007/s10072-018-3596-7
Abstract: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disease, caused by mutations in ABCD1, a gene located on the X chromosome that codes for adrenoleukodystrophy protein (ALDP) [1], which belongs to the adenosine triphosphate (ATP)… read more here.
Keywords: ald; novel missense; linked adrenoleukodystrophy; abcd1 gene ... See more keywords
Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Endocrinology"
DOI: 10.1155/2022/5479781
Abstract: Background X-linked adrenoleukodystrophy (ALD) is an inherited peroxisomal metabolism disorder, resulting from the loss-of-function mutation of ATP-binding cassette protein subfamily D1 (ABCD1) gene. The dysfunction of ALD protein, a peroxisomal ATP-binding cassette transporter, results in… read more here.
Keywords: linked adrenoleukodystrophy; novel mutations; two novel; abcd1 gene ... See more keywords
S149R, a novel mutation in the ABCD1 gene causing X-linked adrenoleukodystrophy
Sign Up to like & getrecommendations! Published in 2017 at "Oncotarget"
DOI: 10.18632/oncotarget.20974
Abstract: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It is a heterogeneous disorder caused by mutations in the ATP-binding cassette protein subfamily D1 (ABCD1) gene, encoding the peroxisomal membrane protein ALDP, which is involved… read more here.
Keywords: novel mutation; s149r; linked adrenoleukodystrophy; abcd1 gene ... See more keywords
A Novel Variant in ABCD1 Gene Presenting as Adolescent-Onset Atypical Adrenomyeloneuropathy With Spastic Ataxia
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2018.00271
Abstract: X-linked adrenoleukodystrophy (X-ALD) is a rare neurological disorder with a highly complex clinical presentation. Adrenal function, spinal cord, peripheral nerves, and cerebral white matter are commonly affected in adult-onset male patients. Here, we report a… read more here.
Keywords: novel variant; ataxia; abcd1 gene; variant abcd1 ... See more keywords
Novel mutations in the ABCD1 gene caused adrenomyeloneuropathy in the Chinese population
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2023.1126729
Abstract: Background As a rare genetic disease, adrenomyeloneuropathy (AMN) is the most common adult phenotype of X-linked adrenoleukodystrophy (X-ALD). Mutations in the ABCD1 gene have been identified to cause AMN. Methods We applied clinical evaluation, laboratory… read more here.
Keywords: mutations abcd1; three patients; abcd1 gene; chinese population ... 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