Associated Papers
Autosomal dominant Kufs disease in a Georgian adult woman: A case report.
Papiashvili N et al.
Epilepsy & Behavior Reports, 2025
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.
Sheth J et al.
Jimd Reports, 2024
Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis.
Naseri N et al.
Clinical Genetics, 2021
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.
Jedličková I et al.
European Journal of Human Genetics : Ejhg, 2020
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