Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Nationwide Study of the Epidemiology and Clinical Features of X-Linked Adrenoleukodystrophy in Denmark.
Videbæk CS et al.
Molecular Genetics and Metabolism, 2025
Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.
Al-Hamed MH et al.
Molecular Genetics & Genomic Medicine, 2025
Genotypic and Phenotypic Characteristics of Pediatric X-Adrenoleukodystrophy in a Chinese Cohort.
Zhang Y et al.
Neuropsychiatric Disease and Treatment, 2025
Genetic analysis of the X-linked Adrenoleukodystrophy ABCD1 gene in Drosophila uncovers a role in Peroxisomal dynamics.
Manor J et al.
Biorxiv : the Preprint Server for Biology, 2024
Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1.
Chen ZP et al.
Nature Communications, 2022
Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy.
Mallack EJ et al.
Cells, 2022
Genetic analysis and prenatal diagnosis of 76 Chinese families with X-linked adrenoleukodystrophy.
Liu S et al.
Molecular Genetics & Genomic Medicine, 2022
Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up.
Matteson J et al.
International Journal of Neonatal Screening, 2021
Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.
Hong S et al.
Molecular Genetics & Genomic Medicine, 2019
Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome.
Saute JA et al.
Arquivos De Neuro-psiquiatria, 2016
ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease.
Kawaguchi K et al.
Biomed Research International, 2016
Progression rate of myelopathy in X-linked adrenoleukodystrophy heterozygotes.
Habekost CT et al.
Metabolic Brain Disease, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics.
Habekost CT et al.
Orphanet Journal of Rare Diseases, 2014
Screening for X-linked adrenoleukodystrophy among adult men with Addison's disease.
Horn MA et al.
Clinical Endocrinology, 2013
Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.
Pereira Fdos S et al.
Plos One, 2012
Phenotypic variability in a family with x-linked adrenoleukodystrophy caused by the p.Trp132Ter mutation.
Soardi FC et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2010
Mutational analyses of Taiwanese kindred with X-linked adrenoleukodystrophy.
Chiu HC et al.
Pediatric Neurology, 2006
ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy.
Pan H et al.
Pediatric Neurology, 2005
X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females.
Coll MJ et al.
Clinical Genetics, 2005
[Screening for carrier and prenatal diagnosis of X-linked adrenoleukodystrophy].
Wang AH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2005
[X-linked adrenoleukodystrophy ABCD1 gene mutation analysis in China].
Pan H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004
[Preliminary analysis of mutations in X-linked adrenoleukodystrophy gene(ABCD1) in Chinese patients].
Xiong H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2003
Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene.
Guimarães CP et al.
Molecular Genetics and Metabolism, 2002
Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.
Dvoráková L et al.
Human Mutation, 2001
X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.
Smith KD et al.
Neurochemical Research, 1999
Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients.
Imamura A et al.
Clinical Genetics, 1997