Mucopolysaccharidosis type II in females and response to enzyme replacement therapy.
Jurecka, Agnieszka
Mucopolysaccharidosis type II in females and response to enzyme replacement therapy. [electronic resource] - American journal of medical genetics. Part A Feb 2012 - 450-4 p. digital
Publication Type: Case Reports; Journal Article
1552-4833
10.1002/ajmg.a.34415 doi
Child
Child, Preschool
Dermatan Sulfate--urine
Enzyme Replacement Therapy
Female
Heparin--urine
Heterozygote
Humans
Iduronate Sulfatase--genetics
Mucopolysaccharidosis II--diagnosis
Mutation
Mucopolysaccharidosis type II in females and response to enzyme replacement therapy. [electronic resource] - American journal of medical genetics. Part A Feb 2012 - 450-4 p. digital
Publication Type: Case Reports; Journal Article
1552-4833
10.1002/ajmg.a.34415 doi
Child
Child, Preschool
Dermatan Sulfate--urine
Enzyme Replacement Therapy
Female
Heparin--urine
Heterozygote
Humans
Iduronate Sulfatase--genetics
Mucopolysaccharidosis II--diagnosis
Mutation