AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)

OBJECTIVE: Phosphomannomutase deficiency (PMM2 congenital disorder of glycosylation [PMM2-CDG]) causes cerebellar syndrome and strokelike episodes (SLEs). SLEs are also described in patients with gain-of-function mutations in the CaV2.1 channel, for which acetazolamide therapy is suggested. Impairme...

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Veröffentlicht in:	ANNALS OF NEUROLOGY 2019-05, Vol.85 (5), p.740-751
Hauptverfasser:	Martinez-Monseny, Antonio F, Bolasell, Merce, Callejon-Poo, Laura, Cuadras, Daniel, Freniche, Veronica, Itzep, Debora C, Gassiot, Susanna, Arango, Pedro, Casas-Alba, Didac, de la Morena, Eugenia, Corral, Javier, Montero, Raquel, Perez-Cerda, Celia, Perez, Belen, Artuch, Rafael, Jaeken, Jaak, Serrano, Mercedes
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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