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Post a Comment Mucopolysaccharidosis type I: genetic variants and enzyme replacement therapy experience in Saint-Petersburg
- Authors: Buchinskaya N.V.1, Kalashnikova O.V.1, Dubko M.F.1, Kostik M.M.1, Chasnyk V.G.1
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Affiliations:
- Saint-Petersburg State Pediatric Medical University
- Issue: Vol 4, No 3 (2013)
- Pages: 41-46
- Section: Articles
- URL: https://journal-vniispk.ru/pediatr/article/view/1074
- DOI: https://doi.org/10.17816/PED4341-46
- ID: 1074
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Abstract
In this article we describe a 5th years experience of enzyme replacement therapy (ERT) of mucopolysaccharidosis (MPS) type I, an autosomal recessive disease caused by deficienty of α-L- iduronidase. ERT by Aldurazyme (BioMarin, Genzyme, USA) used for patients with proved MPS I. The drug was intravenously administered in a dose 100 U/kg or 0,58 mg/kg per week. Also we evaluate the prevalence of genetic variants and first symptoms of the disease on a base of results of clinical examination and therapy children with MPS I in 2007—2012 years in 3rd pediatric department of State Pediatric Medical University. Composed recommendations for early diagnostic MPS I for specialists and parents
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##article.viewOnOriginalSite##About the authors
Natalya Valeryevna Buchinskaya
Saint-Petersburg State Pediatric Medical University
Email: ro-maska@mail.ru
medical laboratory assistant, Chair of Hospital Pediatrics
Olga Valeryevna Kalashnikova
Saint-Petersburg State Pediatric Medical University
Email: koira7@yandex.ru
MD, Ph.D., Нead of 3rd Pediatric Department, Associate Professor Department and Chair of Hospital Pediatrics
Margarita Fedorovna Dubko
Saint-Petersburg State Pediatric Medical University
Email: andrq@rambler.ru
MD, PhD, Associate Professor, Department of Hospital Pediatrics
Mikhail Mikhaylovich Kostik
Saint-Petersburg State Pediatric Medical University
Email: mikhail@yandex.ru
MD, PhD, Associate Professor, Department of Hospital Pediatrics
Vyacheslav Grigoryevich Chasnyk
Saint-Petersburg State Pediatric Medical University
Email: chasnyk@gmail.com
MD, Professor, Head, Chair of Hospital Pediatrics
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