Associated Papers
Nationwide Study of the Epidemiology and Clinical Features of X-Linked Adrenoleukodystrophy in Denmark.
Videbæk CS et al.
Molecular Genetics and Metabolism, 2025
Novel ABCD1 Variants in X-Linked Adrenoleukodystrophy.
Dong SW et al.
Clinical Genetics, 2025
Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1.
Chen ZP et al.
Nature Communications, 2022
Typical and atypical phenotype and neuroimaging of X-linked adrenoleukodystrophy in a Chinese cohort.
Mao C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Genetic analysis and prenatal diagnosis of 76 Chinese families with X-linked adrenoleukodystrophy.
Liu S et al.
Molecular Genetics & Genomic Medicine, 2022
Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature.
Dong B et al.
International Journal of Endocrinology, 2022
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience
Çamtosun E et al.
Journal of Clinical Research in Pediatric Endocrinology, 2021
X-linked adrenoleukodystrophy presenting as isolated spastic paraparesia.
Unluturk Z et al.
Acta Neurologica Belgica, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics.
Schackmann MJ et al.
Molecular Genetics and Metabolism, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study.
van Geel BM et al.
Journal of Inherited Metabolic Disease, 2015
Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation.
Durmaz A et al.
Metabolic Brain Disease, 2014
Glutathione imbalance in patients with X-linked adrenoleukodystrophy.
Petrillo S et al.
Molecular Genetics and Metabolism, 2013
Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method.
Hubbard WC et al.
Molecular Genetics and Metabolism, 2009
Adrenomyeloneuropathy in patients with 'Addison's disease': genetic case analysis.
Mukherjee S et al.
Journal of the Royal Society of Medicine, 2006
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
Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations.
Lira MG et al.
Human Mutation, 2000
Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.
Lachtermacher MB et al.
Human Mutation, 2000
Variability of endocrinological dysfunction in 55 patients with X-linked adrenoleucodystrophy: clinical, laboratory and genetic findings.
Korenke GC et al.
European Journal of Endocrinology, 1997