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TRIT1 defect leads to a recognizable phenotype of myoclonic..:
Muylle, Ewout
;
Jiang, Huafang
;
Johnsen, Christin
...
Journal of Inherited Metabolic Disease. 45 (2022) 6 - p. 1039-1047 , 2022
Link:
https://doi.org/10.1002/jimd.12550
RT Journal T1 <Title>TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_jimd.12550&Exemplar=1&LAN=DE A1 Muylle, Ewout A1 Jiang, Huafang A1 Johnsen, Christin A1 Byeon, Seul Kee A1 Ranatunga, Wasantha A1 Garapati, Kishore A1 Zenka, Roman M. A1 Preston, Graeme A1 Pandey, Akhilesh A1 Kozicz, Tamas A1 Fang, Fang A1 Morava, Eva PB Wiley YR 2022 SN 0141-8955 SN 1573-2665 JF Journal of Inherited Metabolic Disease VO 45 IS 6 SP 1039 OP 1047 LK http://dx.doi.org/https://doi.org/10.1002/jimd.12550 DO https://doi.org/10.1002/jimd.12550 SF ELIB - SuUB Bremen
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