Rare Case of Morquio Syndrome (Mucopolysaccharidosis Type IVA): Difficulties of Diagnostic Search and Management

Rare Case of Morquio Syndrome (Mucopolysaccharidosis Type IVA): Difficulties of Diagnostic Search and Management

Background. This clinical case is of practical interest due to the lack of epidemiological and clinical data in Russian Federation and worldwide, difficulties in diagnosis at the disease onset, as well as little experience in enzyme replacement therapy for mucopolysaccharidosis type IVA (MPS IVA).Cl...

Full description

Saved in:
Bibliographic Details
Main Authors: Yulia P. Semschikova, Yurii A. Kozlov, Andrei B. Yakovlev, Vera M. Shinkareva, Tatyana V. Barzunova, Natalia I. Manjkova, Evgenii A. Balakirev
Format: Article
Language:Russian
Published: Union of pediatricians of Russia 2022-03-01
Series:Педиатрическая фармакология
Subjects:
mucopolysaccharidosis clinical case
lysosomal storage diseases
morquio syndrome а
congenital defect of keratin sulfate metabolism
chondroitin 6-sulphate
osteochondrodystrophy
spondiloepiphysial dysplasia
elosulfase
enzyme replacement therapy
infants
Online Access:https://www.pedpharma.ru/jour/article/view/2129
Tags: Add Tag
No Tags, Be the first to tag this record!
Be the first to leave a comment!
You must be logged in first

Similar Items