Výsledky vyhledávání - "Maria-Rosario Domingo"

Akademický článek

Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease

Publikováno v: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-9 (2017)

Abstract Background The enzymatic replacement therapy (ERT) availability for Gaucher disease (GD) has changed the landscape of the disease, several countries have screening programs. These actions have promoted the early diagnosis and avoided many co

Externí odkaz: https://doaj.org/article/1a7e6eaf92fa43ff82a354ce89bf3c57

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Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease

Publikováno v: ORPHANET JOURNAL OF RARE DISEASES
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-9 (2017)
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
r-FISABIO. Repositorio Institucional de Producción Científica
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Orphanet Journal of Rare Diseases
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

Background: The enzymatic replacement therapy (ERT) availability for Gaucher disease (GD) has changed the landscape of the disease, several countries have screening programs. These actions have promoted the early diagnosis and avoided many complicati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d118498ec1e1f8e477f7239411976a35
https://fundanet.fisabio.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=2009

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MECP2 Gene Study in a Large Cohort

Autor: Izaskun Rubio, Encarna Guillen, Hiart Maortua, Maria-Rosario Domingo, Ainhoa García-Ribes, Miriam Guitart, Maria-Isabel Tejada, M. Martinez, María-Asunción López-Aríztegui, María-Teresa Calvo, María-Pilar Botella, Cristina Martínez-Bouzas, Elisabeth Gabau, Blanca Gener

Publikováno v: The Journal of Molecular Diagnostics. 15:723-729

The MECP2 gene located on Xq28 is one of the most important genes contributing to the spectrum of neurodevelopmental disorders. Therefore, we present our experience in the molecular study of this gene. MECP2 was thoroughly tested for the presence of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8ef72693efeafa8eac951fc204d24ae4
https://doi.org/10.1016/j.jmoldx.2013.05.002

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CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain

Autor: Cristina Martínez-Bouzas, Maria-Isabel Tejada, M. Martinez, Maria-Rosario Domingo, Nerea Puente, María-Teresa Calvo, Feliciano J. Ramos, María-Asunción López-Aríztegui, Hiart Maortua, Ainhoa García-Ribes, Izaskun Rubio

Publikováno v: BMC Medical Genetics
BMC Medical Genetics, Vol 13, Iss 1, p 68 (2012)

Background Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) located in the Xp22 region have been shown to cause a subset of atypical Rett syndrome with infantile spasms or early seizures starting in the first postnatal months. Methods We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a59d8fd68c4439b1e87e0c52759dd12
https://doi.org/10.1186/1471-2350-13-68

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