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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; CDG Spanish Consortium. Martínez-Monseny AF, et al. Ann Neurol. 2019 May;85(5):740-751. doi: 10.1002/ana.25457. Epub 2019 Mar 22. Ann Neurol. 2019. PMID: 30873657 Clinical Trial.
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.
Martinez-Monseny A, Cuadras D, Bolasell M, Muchart J, Arjona C, Borregan M, Algrabli A, Montero R, Artuch R, Velázquez-Fragua R, Macaya A, Pérez-Cerdá C, Pérez-Dueñas B, Pérez B, Serrano M; CDG Spanish Consortium. Martinez-Monseny A, et al. J Med Genet. 2019 Apr;56(4):236-245. doi: 10.1136/jmedgenet-2018-105588. Epub 2018 Nov 21. J Med Genet. 2019. PMID: 30464053