AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG)-Reference-Cited by-同舟云学术

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

Published:2019-03-22 Issue:5 Volume:85 Page:740-751
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol

Author:

Martínez‐Monseny Antonio F.¹,Bolasell Mercè¹,Callejón‐Póo Laura²,Cuadras Daniel³,Freniche Verónica²,Itzep Débora C.⁴,Gassiot Susanna⁵,Arango Pedro⁶,Casas‐Alba Didac¹,Morena Eugenia⁷,Corral Javier⁷,Montero Raquel⁸⁹,Pérez‐Cerdá Celia¹⁰,Pérez Belén¹⁰,Artuch Rafael⁸⁹,Jaeken Jaak¹¹,Serrano Mercedes¹⁴⁹,Velázquez‐Fragua Ramón,García Oscar,Gutierrez‐Solana Luis G,Macaya Alfons,Pérez‐Dueñas Belén,Aguilera‐Albesa Sergio,López Laura,Miranda Ma Concepción,Carratala Francisco,Yoldi M Eugenia,López‐Laso Eduardo,Sierra‐Córcoles Ma Concepción,Sebastián‐García Irma,Aísa Eduardo,Cancho‐Candela Ramon,Carrasco‐Marina M Llanos,Couce María L.,Roldán Susana,Muchart Jordi,Morales Montserrat,Conde‐Lorenzo Noemi,

Affiliation:

1. Genetic Medicine Department and Pediatric Institute of Rare DiseasesSant Joan de Déu Hospital Research Institute Barcelona Spain

2. Neuropsychology Unit, Neuroesplugues, Esplugues de Llobregat Barcelona Spain

3. Statistics DepartmentSant Joan de Déu Foundation Barcelona Spain

4. Neuropediatric DepartmentSant Joan de Déu Hospital Research Institute Barcelona Spain

5. Hematology LaboratorySant Joan de Déu Hospital Research Institute Barcelona Spain

6. Nephrology DepartmentSant Joan de Déu Hospital Research Institute Barcelona Spain

7. Hematology and Medical Oncology ServiceMorales Meseguer University Hospital, Regional Blood Donation Center, Murcia University, IMIB‐Arrixaca, U‐765, Center for Biomedical Research on Rare Diseases Murcia Spain

8. Clinical Biochemistry DepartmentSant Joan de Déu Hospital Research Institute Barcelona Spain

9. U‐703, Center for Biomedical Research on Rare DiseasesInstituto de Salud Carlos III, Sant Joan de Déu Hospital Barcelona Spain

10. Diagnosis of Molecular Diseases CenterAutonomous University of Madrid, U‐746, Center for Biomedical Research on Rare Diseases, Instituto de Salud Carlos III, IdiPAZ Madrid Spain

11. Center for Metabolic DiseaseUniversity Hospital Gasthuisberg, Catholic University of Leuven Leuven Belgium

Funder

European Regional Development Fund

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.25457

Reference43 articles.

1. Congenital Disorders of Glycosylation: A Review