The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Coughlin, CR; Swanson, MA; Kronquist, K; Acquaviva, C; Hutchin, T; Rodriguez-Pomba, P; Vaisanen, ML; Spector, E; Creadon-Swindell, G; Bras-Goldberg, AM; Rahikkala, E; Moilanen, JS; Mahieu, V; Matthijs, G; Bravo-Alonso, I; Perez-Cerda, C; Ugarte, M; V

Van Hove, JLK (reprint author), Univ Colorado, Genet Sect, Dept Pediat, Sch Med, Aurora, CO 80045 USA.

GENETICS IN MEDICINE, 2017; 19 (1): 104

Abstract

Purpose: The study's purpose was to delineate the genetic mutations that cause classic nonketotic hyperglycinemia (NKH). Methods: Genetic results, par......

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