Results 1 -
10
of
10
for
Mucopolysaccharidosis type I
- ... the IDUA gene have been found to cause mucopolysaccharidosis type I (MPS I). Mutations that change one DNA ... Young EP, Winchester BG. Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of ...
- ... the IDS gene have been found to cause mucopolysaccharidosis type II (MPS II). Variants that change one DNA ... syndrome) iduronate-2-sulfatase Tests of IDS PubMed MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 NCBI Gene ClinVar Azambuja AS, Pimentel- ...
- ... the ARSB gene have been found to cause mucopolysaccharidosis type VI (MPS VI). Most of these mutations change ... Miranda MC, Hopwood JJ. Mutational analysis of 105 mucopolysaccharidosis type VI patients. Hum Mutat. 2007 Sep;28(9): ...
- ... the SGSH gene have been found to cause mucopolysaccharidosis type IIIA (MPS IIIA). Most of these mutations change ... associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome). Hum Mutat. 2008 May; ...
- ... the GUSB gene have been found to cause mucopolysaccharidosis type VII (MPS VII). Most of these mutations change ... T. Mutational analysis in longest known survivor of mucopolysaccharidosis type VII. Hum Genet. 2003 Feb;112(2):190- ...
- ... the end. Mutations in the GNS gene cause mucopolysaccharidosis type IIID (MPS IIID). Most of these mutations change ... MF, Halley DJ, Poorthuis BJ, van Diggelen OP. Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations. ...
- ... the HGSNAT gene have been found to cause mucopolysaccharidosis type IIIC (MPS IIIC). Most of these mutations change ... Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. PLoS One. 2009 Oct 13;4(10): ...
- ... the NAGLU gene have been found to cause mucopolysaccharidosis type IIIB (MPS IIIB). Most of these mutations change ... A, Winchester BG. Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB). J Inherit Metab Dis. 2005;28(5): ...
- ... the GALNS gene have been found to cause mucopolysaccharidosis type IV (MPS IV). Most of these mutations change single DNA building blocks (nucleotides) in the gene. All of the mutations that cause MPS IV reduce or ... 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6- ...
- ... the GLB1 gene have been found to cause mucopolysaccharidosis type IV (MPS IV). This is a progressive condition ...
