Ontology highlight
ABSTRACT:
SUBMITTER: Andrade-Campos M
PROVIDER: S-EPMC5415726 | biostudies-literature | 2017 May
REPOSITORIES: biostudies-literature
Andrade-Campos Marcio M Alfonso Pilar P Irun Pilar P Armstrong Judith J Calvo Carmen C Dalmau Jaime J Domingo Maria-Rosario MR Barbera Jose-Luis JL Cano Horacio H Fernandez-Galán Maria-Angeles MA Franco Rafael R Gracia Inmaculada I Gracia-Antequera Miguel M Ibañez Angela A Lendinez Francisco F Madruga Marcos M Martin-Hernández Elena E O'Callaghan Maria Del Mar MDM Del Soto Alberto Pérez AP Del Prado Yolanda Ruiz YR Sancho-Val Ignacio I Sanjurjo Pablo P Pocovi Miguel M Giraldo Pilar P
Orphanet journal of rare diseases 20170503 1
<h4>Background</h4>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 complications in pediatric patients. In Spain ERT has been available since 1993 and 386 patients have been included in the Spanish Registry of Gaucher Disease (SpRGD). The aim of this study is to analyze the impact of ERT on the characteristics at time ...[more]