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

Autor: Martinez-Monseny T, Bolasell M, Callejón L, Cuadras-Palleja D, Freniche V, Itzep DC, Gassiot S, Arango P, Casas-Alba D, de la Morena E, Corral J, Montero-Sanchez R, Pérez-Cerdá C, Pérez-Dueñas B, Artuch-Iriberri R, Jaeken J, and the CDG Spanish Consortium, Serrano M

Publikováno v: ANNALS OF NEUROLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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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

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

Autor: Martínez-Monseny AF; Genetic Medicine Department and Pediatric Institute of Rare Diseases, Sant Joan de Déu Hospital Research Institute, Barcelona, Spain., Bolasell M; Genetic Medicine Department and Pediatric Institute of Rare Diseases, Sant Joan de Déu Hospital Research Institute, Barcelona, Spain., Callejón-Póo L; Neuropsychology Unit, Neuroesplugues, Esplugues de Llobregat, Barcelona, Spain., Cuadras D; Statistics Department, Sant Joan de Déu Foundation, Barcelona, Spain., Freniche V; Neuropsychology Unit, Neuroesplugues, Esplugues de Llobregat, Barcelona, Spain., Itzep DC; Neuropediatric Department, Sant Joan de Déu Hospital Research Institute, Barcelona, Spain., Gassiot S; Hematology Laboratory, Sant Joan de Déu Hospital Research Institute, Barcelona, Spain., Arango P; Nephrology Department, Sant Joan de Déu Hospital Research Institute, Barcelona, Spain., Casas-Alba D; Genetic Medicine Department and Pediatric Institute of Rare Diseases, Sant Joan de Déu Hospital Research Institute, Barcelona, Spain., de la Morena E; Hematology and Medical Oncology Service, Morales Meseguer University Hospital, Regional Blood Donation Center, Murcia University, IMIB-Arrixaca, U-765, Center for Biomedical Research on Rare Diseases, Murcia, Spain., Corral J; Hematology and Medical Oncology Service, Morales Meseguer University Hospital, Regional Blood Donation Center, Murcia University, IMIB-Arrixaca, U-765, Center for Biomedical Research on Rare Diseases, Murcia, Spain., Montero R; Clinical Biochemistry Department, Sant Joan de Déu Hospital Research Institute, Barcelona, Spain.; U-703, Center for Biomedical Research on Rare Diseases, Instituto de Salud Carlos III, Sant Joan de Déu Hospital, Barcelona, Spain., Pérez-Cerdá C; Diagnosis of Molecular Diseases Center, Autonomous University of Madrid, U-746, Center for Biomedical Research on Rare Diseases, Instituto de Salud Carlos III, IdiPAZ, Madrid, Spain., Pérez B; Diagnosis of Molecular Diseases Center, Autonomous University of Madrid, U-746, Center for Biomedical Research on Rare Diseases, Instituto de Salud Carlos III, IdiPAZ, Madrid, Spain., Artuch R; Clinical Biochemistry Department, Sant Joan de Déu Hospital Research Institute, Barcelona, Spain.; U-703, Center for Biomedical Research on Rare Diseases, Instituto de Salud Carlos III, Sant Joan de Déu Hospital, Barcelona, Spain., Jaeken J; Center for Metabolic Disease, University Hospital Gasthuisberg, Catholic University of Leuven, Leuven, Belgium., Serrano M; Genetic Medicine Department and Pediatric Institute of Rare Diseases, Sant Joan de Déu Hospital Research Institute, Barcelona, Spain.; Neuropediatric Department, Sant Joan de Déu Hospital Research Institute, Barcelona, Spain.; U-703, Center for Biomedical Research on Rare Diseases, Instituto de Salud Carlos III, Sant Joan de Déu Hospital, Barcelona, Spain.

Publikováno v: Annals of neurology [Ann Neurol] 2019 May; Vol. 85 (5), pp. 740-751. Date of Electronic Publication: 2019 Mar 22.