- DHDDS Mutation: A Rare Cause of Refractory Epilepsy and Hyperkinetic Movement Disorder
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Sahil Mehta, Vivek Lal
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J Mov Disord. 2023;16(1):107-109. Published online January 12, 2023
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DOI: https://doi.org/10.14802/jmd.22154
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- Niemann-Pick C-like Endolysosomal Dysfunction in DHDDS Patient Cells, a Congenital Disorder of Glycosylation, Can Be Treated with Miglustat
Hannah L. Best, Sophie R. Cook, Helen Waller-Evans, Emyr Lloyd-Evans International Journal of Molecular Sciences.2025; 26(4): 1471. CrossRef - DHDDS and NUS1: A Converging Pathway and Common Phenotype
Laura J. Williams, Sophie Waller, Jessica Qiu, Emily Innes, Noha Elserafy, Peter Procopis, Hugo Sampaio, Neil Mahant, Michel C. Tchan, Shekeeb S. Mohammad, Hugo Morales‐Briceño, Victor S.C. Fung Movement Disorders Clinical Practice.2024; 11(1): 76. CrossRef
- Early onset cataracts as a clinical clue to DJ-1-related parkinsonism
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Sahil Mehta, Jagdeep Singh, Saurabh Mishra, Vivek Lal
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Received January 22, 2025 Accepted March 24, 2025 Published online March 24, 2025
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DOI: https://doi.org/10.14802/jmd.25016
[Accepted]
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