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

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

Impact of immunoparesis on Gaucher disease (GD): Results from a network relationship analysis of data at diagnosis of the patients included in the Spanish registry of GD

Autor: Jorge J. Cebolla Sanz, Beatriz Gomez-Barrera, Maria Blanca Medrano Engay, Laura López de Frutos, Mercedes Roca Espiau, David Iñiguez, Marcio Andrade-Campos, Jorge Perez-Heredia

Publikováno v: Molecular Genetics and Metabolism. 129:S21-S22

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9b526251f9e81f79648ce701e33d84e8
https://doi.org/10.1016/j.ymgme.2019.11.026

Twelve years of experience with miglustat in the treatment of type 1 Gaucher disease: The Spanish ZAGAL project

Autor: Javier de la Serna, Jose Manuel Puerta, Rafael Franco, Antonio Acedo, Blanca Medrano-Engay, Marcio Andrade-Campos, Cristina Gil-Cortes, Vicente Giner, Olga Salamero, Lucia Villalon, Abelardo Bárez, Paz Latre, Koldo Atutxa, Ines Loyola, Inmaculada Roig, Vicente Diaz-Morant, Ma Angeles Fernández-Galán, Elisa Luño, Roberto Hernández-Martin, Angela Ibañez, Pilar Giraldo, Pilar Irún, Miguel Pocovi, Pilar Alfonso, Margarita Blanes

Publikováno v: BLOOD CELLS MOLECULES AND DISEASES
r-FISABIO. Repositorio Institucional de Producción Científica
instname
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
Zaguán. Repositorio Digital de la Universidad de Zaragoza
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante

We report data from a prospective, observational study (ZAGAL) evaluating miglustat 100mg three times daily orally. in treatment-naïve patients and patients with type 1 Gaucher Disease (GD1) switched from previous enzyme replacement therapy (ERT). C

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84d50d2f513f80f4a6efccd4dcaa63c8
https://fundanet.fisabio.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=2366

Multimorbidity in type 1 Gaucher disease patients under miglustat therapy

Autor: Roberto Hernández-Martin, Soledad Noya, Javier de la Serna, Pilar Giraldo, Ana Roy, Javier García-Frade, Elisa Luño, Vicente Diaz-Morant, Koldo Atutxa, Lucia Villalon, Blanca Medrano Engay

Publikováno v: Molecular Genetics and Metabolism. 123:S93-S94

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::753764947fc15ac63c3c5fa123599da3
https://doi.org/10.1016/j.ymgme.2017.12.245