Nato D. Vashakmadze
Moscow, MOW 119435, Russian Federation
Last Updated: 09/26/2026
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Found 11 publications
Clinical and genetic characteristics of mucopolysaccharidosis type VI according to the Russian registry.
Journal: World journal of clinical pediatrics
Published: May 29, 2025
Delayed diagnosis and clinical course of alpha-mannosidosis: A retrospective study of 25 patients with varying severity.
Journal: Genetics in medicine open
Published: February 26, 2025
Analysis of fatal outcomes of patients with mucopolysaccharidosis type II according to the Russian mucopolysaccharidosis registry.
Journal: World journal of clinical pediatrics
Published: December 31, 2024
How not to Misdiagnose the Mild Forms of Mucopolysaccharidosis and Juvenile Idiopathic Arthritis.
Journal: Current pediatric reviews
Published: July 06, 2024
Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.
Journal: Frontiers in molecular biosciences
Published: September 26, 2021
Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia.
Journal: Frontiers in molecular biosciences
Published: September 20, 2021
Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS).
Journal: Orphanet journal of rare diseases
Published: December 17, 2019
Transition of patients with mucopolysaccharidosis from paediatric to adult care.
Journal: Molecular genetics and metabolism reports
Published: July 03, 2019
Sanfilippo Syndrome
Journal: Vestnik Rossiiskoi akademii meditsinskikh nauk
Published: December 30, 2015
Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: May 03, 2014
Genetic analysis of 17 children with Hunter syndrome: identification and functional characterization of four novel mutations in the iduronate-2-sulfatase gene.
Journal: Journal of genetics and genomics = Yi chuan xue bao
Published: October 27, 2013
Showing 1-11 of 11
Last Updated: 09/26/2026