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. 2024 May 6;6(3):fcae160. doi: 10.1093/braincomms/fcae160

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© The Author(s) 2024. Published by Oxford University Press on behalf of the Guarantors of Brain.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Clinical manifestations of dGk deficient patients. (A) Percentage of patients with muscular, central nervous system, or liver signs/symptoms at age of onset. Data were available for: 85/88 neonatal patients, 49/51 infantile patients, 4/4 pediatric patients and 15/15 adult patients. (B, C) Prevalence of symptoms in different organs or tissues at the disease onset (B) and during the clinical progression (C) expressed as a percentage. Data availability: 160/202 patients for liver symptoms, 181/202 patients for CNS symptoms, 159/202 patients for muscular symptoms. Follow-up data on the clinical course were available in 181/202. CNS: central nervous system.