Associated Papers
Overview of genetic mutations causing adrenoleukodystrophy: A case-series study.
Fathi M et al.
Molecular Genetics and Metabolism Reports, 2025
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
39138584 (PubMed )
Supplement: 13023_2024_3300_MOESM4_ESM.xlsx › Sheet1
A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report.
Liu J et al.
Medicine, 2024
The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.
Wu C et al.
Brain : a Journal of Neurology, 2023
36380532 (PubMed )
Supplement: awac426_supplementary_data.pdf
Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy.
Dohr KA et al.
International Journal of Molecular Sciences, 2023
An ABCD1 Mutation (c.253dupC) Caused Diverse Phenotypes of Adrenoleukodystrophy in an Iranian Consanguineous Pedigree.
Mehrpour M et al.
Journal of Molecular and Genetic Medicine : an International Journal of Biomedical Research, 2016
The Clinical Features and Diagnosis of Adrenoleukodystrophy: A Case Series of Iranian Family.
Karimzadeh P et al.
Iranian Journal of Child Neurology, 2016
Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian Population.
Sheth H et al.
Neurology India, 0
Spectrum of Clinical and Imaging Characteristics of 48 X-Linked Adrenoleukodystrophy Patients: Our Experience from a University Hospital.
Bhat M et al.
Neurology India, 0
Select a paper to view details