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  1. No Access

    Article

    Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients

    Lysosomal storage diseases (LSDs) are known as genetic disorders with an overall prevalence of 1 per 7700 live births. Sphingolipidosis, which is a subgroup of LSDs, is resulted from mutations in the coding ge...

    Rezvan Abtahi, Parvaneh Karimzadeh, Alireza Rezayi… in Journal of Molecular Neuroscience (2022)

  2. Article

    Open Access

    Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations

    Niemann-Pick disease type C (NPC) is a rare lysosomal neurovisceral storage disease caused by mutations in the NPC 1 (95%) or NPC2 (5%) genes. The products of NPC1 and NPC2 genes play considerable roles in glycol...

    Rezvan Abtahi, Parvaneh Karimzadeh, Omid Aryani, Diba Akbarzadeh… in Hereditas (2022)

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