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TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels

Muylle, E; Jiang, HF; Johnsen, C; Byeon, SK; Ranatunga, W; Garapati, K; Zenka, RM; Preston, G; Pandey, A; Kozicz, T; Fang, F; Morava, E

Morava, E (通讯作者),Mayo Clin, Dept Clin Genom, 200 First St SW, Rochester, MN 55905 USA.;Fang, F (通讯作者),Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens & Lealth, Dept Neurol, Beijing 100045, Peoples R China.

JOURNAL OF INHERITED METABOLIC DISEASE, 2022; 45 (6): 1039

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