Demographic, Clinical and Genetic Characteristics of Child Gaucher Disease Patients in Russia: Pediatric Register Data

Demographic, Clinical and Genetic Characteristics of Child Gaucher Disease Patients in Russia: Pediatric Register Data

Background: Registers are an effective tool for tracing the dynamics of patients with rare pathologies.Objective: Our aim was to examine the demographic, clinical and genetic features of child Gaucher disease patients in Russia.Methods: We held a retrospective survey of the pediatric register data w...

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Bibliographic Details
Main Authors: G. B. Movsisyan, O. S. Gundobina, L. S. Namazova-Baranova, K. V. Savostyanov, A. N. Pushkov, V. V. Chernikov, N. N. Mazanova, A. M. Romanyuk, V. I. Smirnov
Format: Article
Language:Russian
Published: Union of pediatricians of Russia 2016-11-01
Series:Педиатрическая фармакология
Subjects:
children
gaucher disease
register
molecular-genetic diagnosis
mutations
imiglucerase
velaglucerase alfa
Online Access:https://www.pedpharma.ru/jour/article/view/1441
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