Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry

Autor: Michael Beck, Uma Ramaswami, Elizabeth Hernberg-Ståhl, Derralynn A. Hughes, Christoph Kampmann, Atul B. Mehta, Kathleen Nicholls, Dau-Ming Niu, Guillem Pintos-Morell, Ricardo Reisin, Michael L. West, Jörn Schenk, Christina Anagnostopoulou, Jaco Botha, Roberto Giugliani

Publikováno v: Scientia
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS

Agalsidase alfa; Cardiovascular outcomes; Renal outcomes Agalsidasa alfa; Resultados cardiovasculares; Resultados renales Agalsidasa alfa; Resultats cardiovasculars; Resultats renals Background Patient registries provide long-term, real-world evidenc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7448f1ad752c81b15061be3402c9f04f
https://hdl.handle.net/11351/8115

Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

Autor: Elena Arranz Canales, Elisenda Cortès-Saladelafont, Elena Martín-Hernández, Ricardo Gil Sánchez, Guillem Pintos-Morell, Javier Blasco-Alonso, Mónica A. López Rodríguez, David Moreno-Martinez, Encarna Guillén-Navarro, María Juliana Ballesta-Martínez, María Teresa García-Silva, María L. Couce, Pilar Quijada-Fraile, Montserrat Morales Conejo, Salvador García Morillo, Marc Moltó-Abad

Publikováno v: ORPHANET JOURNAL OF RARE DISEASES
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Orphanet Journal of Rare Diseases
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Scientia

Background Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is a progressive and disabling disease characterized by a deficiency of the enzyme N-acetylgalactosamine-6-sulphate sulphatase. Its clinical presentation is very heterogeneous and poorl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dcee367364b7e6201af39a9a13745d3
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=15195

Enzymatic debridement with proteolytic enzymes enriched in bromelain vs surgical debridement for burn wound management: a randomized open-label clinical trial

Autor: Ragalie, Alexandra Gabriela

Publikováno v: Medicina (TFG)
DUGiDocs – Universitat de Girona
instname

BACKGROUND. Early surgical debridement followed by autografting is currently the gold standard treatment for deep burns. However, tangential debridement is considered to be a complicated technique with several associated morbidities, including blood

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::880aa294094ac8e08c9f667149060f07
http://hdl.handle.net/10256/19909

The Value of Case Reports in Systematic Reviews from Rare Diseases. The Example of Enzyme Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type II (MPS-II)

Autor: Bernat Miguel-Huguet, Almudena Pardo, Javier Cortes, Jordi Pérez-López, Miguel Sampayo-Cordero, Antonio Llombart-Cussac, Andrea Malfettone, Jose Perez-Garcia

Publikováno v: Dipòsit Digital de la UB
Universidad de Barcelona
Scientia
International Journal of Environmental Research and Public Health
Volume 17
Issue 18
International Journal of Environmental Research and Public Health, Vol 17, Iss 6590, p 6590 (2020)

Informe de un caso; Enfermedad rara; Revisión sistemática Informe d'un cas; Malaltia rara; Revisió sistemàtica Case report; Rare disease; Systematic review Background: Case reports are usually excluded from systematic reviews. Patients with rare

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf0f92d3e9458936af60be8675134179
http://hdl.handle.net/2445/173426