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7. Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II. Al Teneiji A; Bruun TU; Sidky S; Cordeiro D; Cohn RD; Mendoza-Londono R; Moharir M; Raiman J; Siriwardena K; Kyriakopoulou L; Mercimek-Mahmutoglu S Mol Genet Metab; 2017 Mar; 120(3):235-242. PubMed ID: 28122681 [TBL] [Abstract][Full Text] [Related]
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11. AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG). Martínez-Monseny AF; Bolasell M; Callejón-Póo L; Cuadras D; Freniche V; Itzep DC; Gassiot S; Arango P; Casas-Alba D; de la Morena E; Corral J; Montero R; Pérez-Cerdá C; Pérez B; Artuch R; Jaeken J; Serrano M; Ann Neurol; 2019 May; 85(5):740-751. PubMed ID: 30873657 [TBL] [Abstract][Full Text] [Related]
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