Article
Baseline characteristics and outcome in Romanian patients with Gaucher disease type 1.
European journal of internal medicine - 1 Apr 2010
Grigorescu-Sido Paula, Drugan Cristina, Alkhzouz Camelia, Zimmermann Anca, Coldea Cristina, Denes Carmen, Grigorescu Mircea Dan, Cret Victoria, Bucerzan Simona
Abstract excerpt
BACKGROUND/AIM: To present clinical and genetic characteristics of all Romanian patients with Gaucher disease type 1, in whom specific diagnosis has been confirmed by enzymatic and molecular methods and to analyze their outcome with and without enzymatic replacement therapy (ERT). PATIENTS, METHODS: There are fifty patients (F/M - 1.63/1) with Gaucher disease type 1. Clinical status, haemoglobin, thrombocytes,...
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