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Early onset cataracts as a clinical clue to DJ-1-related parkinsonism
Sahil Mehta, Jagdeep Singh, Saurabh Mishra, Vivek Lal
Received January 22, 2025  Accepted March 24, 2025  Published online March 24, 2025  
DOI: https://doi.org/10.14802/jmd.25016    [Accepted]
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DHDDS Mutation: A Rare Cause of Refractory Epilepsy and Hyperkinetic Movement Disorder
Sahil Mehta, Vivek Lal
J Mov Disord. 2023;16(1):107-109.   Published online January 12, 2023
DOI: https://doi.org/10.14802/jmd.22154
  • 3,026 View
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  • 2 Web of Science
  • 2 Crossref
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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

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