Zobrazeno 1 - 10 of 46 pro vyhledávání: '"Jorge J. Cebolla"'
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Akademický článek
Identification of risk features for complication in Gaucher’s disease patients: a machine learning analysis of the Spanish registry of Gaucher disease
Autor: Marcio M. Andrade-Campos, Laura López de Frutos, Jorge J. Cebolla, Irene Serrano-Gonzalo, Blanca Medrano-Engay, Mercedes Roca-Espiau, Beatriz Gomez-Barrera, Jorge Pérez-Heredia, David Iniguez, Pilar Giraldo
Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background Since enzyme replacement therapy for Gaucher disease (MIM#230800) has become available, both awareness of and the natural history of the disease have changed. However, there remain unmet needs such as the identification of patient
Externí odkaz: https://doaj.org/article/29234a24352744b8afb0e10a2ead564d
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4
Akademický článek
Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher’s disease
Autor: Mercedes Roca-Espiau, Marcio Andrade-Campos, Jorge J. Cebolla, Laura López de Frutos, Blanca Medrano-Engay, Maria-Pilar López-Royo, Pilar Giraldo
Publikováno v: Journal of Orthopaedic Surgery and Research, Vol 14, Iss 1, Pp 1-8 (2019)
Abstract Background Chronic fatigue (CFg) is a prevalent symptom in Gaucher disease (GD) at diagnosis (79%) and remains in a quarter of patients after years of therapy. Bone abnormalities are present in over 70% and peripheral neuropathy in about 11%
Externí odkaz: https://doaj.org/article/5cb24522df0d45d8910ae3351f357b65
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5
Akademický článek
Mutations identified in a cohort of Mexican patients with lysosomal acid lipase deficiency
Autor: Alejandra Consuelo-Sánchez, Rodrigo Vázquez-Frias, Alejandra Reyes-De La Rosa, Carlos P. Acosta-Rodríguez-Bueno, María P. Ortal-Vite, Jorge J. Cebolla
Publikováno v: Annals of Hepatology, Vol 18, Iss 4, Pp 646-650 (2019)
Introduction and Objectives: Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive disease caused by mutations in the LIPA gene, located on the long arm of chromosome 10 (10q23.31). Up until now, more than 59 mutations have been describe
Externí odkaz: https://doaj.org/article/3972cae7db2e42e3a066bb254f90f627
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9
Serum protein profile analysis in lysosomal storage disorders patients
Autor: Elena García-González, Yolanda Gonzalez-Irazabal, Carlos Lahoz, Laura López de Frutos, Pilar Irún, Jorge J. Cebolla, Pilar Giraldo, Beatriz Garcia-Rodriguez
Publikováno v: Clinica Chimica Acta. 510:430-436
Introduction Serum protein electrophoresis (SPE) is a well-established technique to identify alterations in plasma protein profiles, caused by diseases as multiple myeloma (MM). In addition, it could be a cost-effective technique to discover new plas
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3e4626c8cd430c3a9f064e9f0559d51
https://doi.org/10.1016/j.cca.2020.07.056
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10
Identification of risk features for complication in Gaucher’s disease patients: a machine learning analysis of the Spanish registry of Gaucher disease
Autor: Irene Serrano-Gonzalo, Marcio Andrade-Campos, David Iñiguez, Beatriz Gomez-Barrera, Jorge Perez-Heredia, Blanca Medrano-Engay, Mercedes Roca-Espiau, Laura López de Frutos, Pilar Giraldo, Jorge J. Cebolla
Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
Zaguán: Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
Orphanet Journal of Rare Diseases
Background Since enzyme replacement therapy for Gaucher disease (MIM#230800) has become available, both awareness of and the natural history of the disease have changed. However, there remain unmet needs such as the identification of patients at risk
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::968be8019c04e42749429908d6b571de
http://link.springer.com/article/10.1186/s13023-020-01520-7
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