Quantitation of a plasma biomarker profile for the early detection of Gaucher disease type 1 patients

Menkovic, I; Boutin, M; Alayoubi, A; Curado, F; Bauer, P; Mercier, FE; Rivard, GE; Auray-Blais, C

Auray-Blais, C (通讯作者),Univ Sherbrooke, Fac Med & Hlth Sci, Ctr Rech CHUS, Dept Pediat,Div Med Genet,CIUSSS Estrie CHUS, 3001,12th Ave North, Sherbrooke, PQ J1H 5N4, Canada.

BIOANALYSIS, 2022; 14 (4): 223

Abstract

Aim: Gaucher disease (GD) is caused by a deficiency of the lysosomal enzyme acid beta-glucocerebrosidase. Recent metabolomic studies highlighted sever......

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