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
instname

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0767064b668a0bac4dc1c7e91ef35966
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16376

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.

Length of illness does not predict cognitive dysfunction in chronic fatigue syndrome.

Autor: Santamarina-Perez P, Eiroa-Orosa FJ, Freniche V, Moreno-Mayos A, Alegre J, Saez N, Jacas C

Publikováno v: Applied Neuropsychology; 2011, Vol. 18 Issue 3, p216-222, 7p

[The role of depression in cognitive impairment in patients with chronic fatigue syndrome].

Autor: Santamarina-Pérez P; Servicio de Psiquiatría, Hospital Universitario Vall d'Hebron, Universitat Autònoma de Barcelona, España. psantamarina@vhebron.net, Freniche V, Eiroa-Orosa FJ, Llobet G, Sáez N, Alegre J, Jacas C

Publikováno v: Medicina clinica [Med Clin (Barc)] 2011 Mar 12; Vol. 136 (6), pp. 239-43. Date of Electronic Publication: 2010 Dec 09.

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals.

Autor: Pascoal, C.^1,2,3,4 (AUTHOR), Ferreira, I.² (AUTHOR), Teixeira, C.^2,5 (AUTHOR), Almeida, E.^2,3 (AUTHOR), Slade, A.⁶ (AUTHOR), Brasil, S.^1,2,3,4 (AUTHOR), Francisco, R.^1,2,3,4 (AUTHOR), Ligezka, A. N.⁷ (AUTHOR), Morava, E.⁷ (AUTHOR), Plotkin, H.⁸ (AUTHOR), Jaeken, J.^2,9 (AUTHOR), Videira, P. A.^1,2,3,4 (AUTHOR), Barros, L.^2,10 (AUTHOR), dos Reis Ferreira, V.^1,2,3,4 (AUTHOR) sindromecdg@gmail.com

Publikováno v: Orphanet Journal of Rare Diseases. 10/29/2022, Vol. 17 Issue 1, p1-22. 22p.