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AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
Martínez-Monseny, Antonio F; Bolasell, Mercè; Callejón-Póo, Laura; Cuadras, Daniel; Freniche, Verónica; Itzep, Débora C; Gassiot, Susanna; Arango, Pedro; Casas-Alba, Didac; de la Morena, Eugenia; Corral, Javier; Montero, Raquel; Pérez-Cerdá, Celia; Pérez, Belén; Artuch, Rafael; Jaeken, Jaak; Serrano, Mercedes.
Afiliação
  • 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.
  • Pérez-Cerdá C; U-703, Center for Biomedical Research on Rare Diseases, Instituto de Salud Carlos III, Sant Joan de Déu Hospital, Barcelona, 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; 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.
  • Jaeken J; Clinical Biochemistry Department, Sant Joan de Déu Hospital Research Institute, Barcelona, Spain.
  • Serrano M; U-703, Center for Biomedical Research on Rare Diseases, Instituto de Salud Carlos III, Sant Joan de Déu Hospital, Barcelona, Spain.
Ann Neurol ; 85(5): 740-751, 2019 05.
Article em En | MEDLINE | ID: mdl-30873657
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Inibidores da Anidrase Carbônica / Doenças Cerebelares / Fosfotransferases (Fosfomutases) / Defeitos Congênitos da Glicosilação / Acetazolamida Tipo de estudo: Clinical_trials / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Inibidores da Anidrase Carbônica / Doenças Cerebelares / Fosfotransferases (Fosfomutases) / Defeitos Congênitos da Glicosilação / Acetazolamida Tipo de estudo: Clinical_trials / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article