Diagnostic Difficulties of Mucopolysaccharidosis Type I Mild Forms: Clinical Cases

Diagnostic Difficulties of Mucopolysaccharidosis Type I Mild Forms: Clinical Cases

Mucopolysaccharidosis type I mild forms include Scheie syndrome and Hurler-Scheie syndrome that are characterized by slow progression, intact intelligence, and primarily effect on visual organ, musculoskeletal and cardiovascular systems. Early diagnostics, multidisciplinary approach to examination a...

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Main Authors: Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Natalia V. Zhurkova, Ekaterina Yu. Zakharova, Elena J. Voskobaeva, Marina A. Babaikina, Lyudmila M. Mikhaylova
Format: Article
Language:English
Published: "Paediatrician" Publishers LLC 2020-06-01
Series:Вопросы современной педиатрии
Subjects:
mucopolysaccharidosis
scheie syndrome
hurler-scheie syndrome
alpha-l-iduronidase
diagnostics
Online Access:https://vsp.spr-journal.ru/jour/article/view/2379
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