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Page 1
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
Tangeraas T, Constante JR, Backe PH, Oyarzábal A, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, De Los Santos M, López JM, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S, Ormazabal A, Stoway SD, Artuch R, Dixon M, Mørkrid L, García-Cazorla A. Tangeraas T, et al. Among authors: ummuhan o. Brain. 2023 Jul 3;146(7):3003-3013. doi: 10.1093/brain/awad010. Brain. 2023. PMID: 36729635
Genetic variants of GBA and GLA in a Turkish cohort of Parkinson's disease: A preliminary report.
Yekedüz MK, Yilmaz R, Kayis G, Doğulu N, Öncül Ü, Abali T, Temizyurek AD, Çelik G, Çöklü H, Gemci E, Yalcin A, Ceylaner S, Akbostancı MC, Eminoğlu FT. Yekedüz MK, et al. Among authors: oncul u. Parkinsonism Relat Disord. 2023 May;110:105390. doi: 10.1016/j.parkreldis.2023.105390. Epub 2023 Mar 31. Parkinsonism Relat Disord. 2023. PMID: 37027993 No abstract available.
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