Sökning: "mucopolysaccharidosis type II"
Hittade 2 avhandlingar innehållade orden mucopolysaccharidosis type II.
1. Molecular investigation of mucopolysaccharidosis type II (Hunter syndrome) in man
Sammanfattning : Mucopolysaccharidosis type II or Hunter syndrome is a rare lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2-sulfatase (IDS). The disorder is inherited in an X-linked recessive fashion and has a broad spectrum of clinical phenotypes ranging from severe to mild. LÄS MER
2. Genomic rearrangements at the cause of three genetic disorders in man
Sammanfattning : Genomic rearrangements are a common cause of genetic disorders in man. This thesis describes the analysis of genomic rearrangements observed in patients with the Hunter syndrome (MPS II), incontinentia pigmenti (IP) and the Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). MPS II is an X-linked recessive lysosomal storage disorder. LÄS MER