Results 1 -
10
of
10
for
Mucopolysaccharidosis
- ... the IDS gene have been found to cause mucopolysaccharidosis type II (MPS II). Variants that change one ... syndrome) iduronate-2-sulfatase Tests of IDS PubMed MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 NCBI Gene ClinVar Azambuja AS, ...
- ... the IDUA gene have been found to cause mucopolysaccharidosis type I (MPS I). Mutations that change one ... Young EP, Winchester BG. Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification ...
- ... the ARSB gene have been found to cause mucopolysaccharidosis type VI (MPS VI). Most of these mutations ... B; ARSB NCBI Gene ClinVar Clarke LA. The mucopolysaccharidoses: a success of molecular medicine. Expert Rev Mol ...
- ... the GALNS gene have been found to cause mucopolysaccharidosis type IV (MPS IV). Most of these mutations ... N, Tomatsu S. Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6- ...
- ... the GUSB gene have been found to cause mucopolysaccharidosis type VII (MPS VII). Most of these mutations ... T. Mutational analysis in longest known survivor of mucopolysaccharidosis type VII. Hum Genet. 2003 Feb;112(2): ...
- ... the HGSNAT gene have been found to cause mucopolysaccharidosis type IIIC (MPS IIIC). Most of these mutations ... of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). Am J Hum ...
- ... the NAGLU gene have been found to cause mucopolysaccharidosis type IIIB (MPS IIIB). Most of these mutations ... BG. Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB). J Inherit Metab Dis. 2005;28(5): ...
- ... the SGSH gene have been found to cause mucopolysaccharidosis type IIIA (MPS IIIA). Most of these mutations ... associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome). Hum Mutat. 2008 ...
- ... the end. Mutations in the GNS gene cause mucopolysaccharidosis type IIID (MPS IIID). Most of these mutations ... MF, Halley DJ, Poorthuis BJ, van Diggelen OP. Mucopolysaccharidosis type IIID: 12 new patients and 15 novel ...
- ... the GLB1 gene have been found to cause mucopolysaccharidosis type IV (MPS IV). This is a progressive ...
