Open AccessRare cases of mucopolysaccharidosis type I in children with Hurler and Hurler-Scheie syndromes
Author(s) -
A.E. Babushkin,
E.G. Khusnutdinova,
E.K. Ryskulova,
R.M. Mukhametshina
Publication year - 2018
Publication title -
rossijskij oftalʹmologičeskij žurnal
Language(s) - English
Resource type - Journals
eISSN - 2587-5760
pISSN - 2072-0076
DOI - 10.21516/2072-0076-2018-11-1-53-58
Subject(s) - medicine , hurler syndrome , hunter syndrome , mucopolysaccharidosis , mucopolysaccharidosis type i , pediatrics , mucopolysaccharidosis i , proband , enzyme replacement therapy , disease , surgery , dermatology , pathology , mutation , gene , biochemistry , chemistry