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Overview of genetic mutations causing adrenoleukodystrophy: A case-series study | Synapse

June 24, 2025Open Access

Overview of genetic mutations causing adrenoleukodystrophy: A case-series study

Key Points

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Abstract

mutations among Iranian patients, providing applicable information for appropriate genetic counseling in the affected families.

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Cite This Study

Fathi et al. (Tue,) studied this question.

synapsesocial.com/papers/6a01f3aebd6301933f5cd5cb https://doi.org/https://doi.org/10.1016/j.ymgmr.2025.101237

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters1993 · 1,212 citations
2X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations.2021 · 10 citations
3Peroxisomes, Peroxisomal Diseases, and the Hepatotoxicity Induced by Peroxisomal Metabolites2012 · 36 citations
4The Clinical Features and Diagnosis of Adrenoleukodystrophy: A Case Series of Iranian Family.2016 · 5 citations
5Novel <i>ABCD1</i> gene mutations in Iranian pedigrees with X-linked adrenoleukodystrophy2019 · 3 citations