D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants

Pop, A; Struys, EA; Jansen, EEW; Fernandez, MR; Kanhai, WA; van Dooren, SJM; Ozturk, S; van Oostendorp, J; Lennertz, P; Kranendijk, M; van der Knaap, MS; Gibson, KM; van Schaftingen, E; Salomons, GS

Salomons, GS (reprint author), Vrije Univ Amsterdam, Amsterdam Univ, Amsterdam Neurosci,Amsterdam Gastroenterol & Meta, Metab Unit,Dept Clin Chem,Med Ctr, PK 1X 014,Boelelaan 1118, NL-1081 HV Amsterdam, Netherlands.

HUMAN MUTATION, 2019; 40 (7): 975

Abstract

D-2-hydroxyglutaric aciduria Type I (D-2-HGA Type I), a neurometabolic disorder with a broad clinical spectrum, is caused by recessive variants in the......

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