Results 1 - 10 of 15 for Mucopolysaccharidosis type 6
  1. ... do not have an enzyme called N -acetylgalactosamine-6-sulfatase. ... glycosaminoglycans build up in the body. This can damage organs.
  2. ... 6 Mucopolysaccharidosis VI Polydystrophic dwarfism Genetic Testing Registry: Mucopolysaccharidosis type 6 Mucopolysaccharidosis type VI Disease InfoSearch National Organization for ...
  3. ... of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations. ... upon lysosomal storage and are useful biomarkers of mucopolysaccharidosis VI. Pathogenetics. 2009 Jun 16;2(1):4. doi: ...
  4. ... 2007-1350. Review. Citation on PubMed Scarpa M. Mucopolysaccharidosis Type II. 2007 Nov 6 [updated 2018 Oct 4]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. ... Bodamer OA. Mucopolysaccharidosis type II in females: case report and review of ...
  5. ... 2007-1350. Review. Citation on PubMed Scarpa M. Mucopolysaccharidosis Type II. 2007 Nov 6 [updated 2018 Oct 4]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® ... type II (Hunter syndrome): a clinical review and recommendations ...
  6. ... IVA (Morquio A). Hum Mutat. 2005 Dec;26(6):500-12. Citation on PubMed
  7. ... of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A. Hum Mutat. 2004 Jun;23(6):559-66. Citation on PubMed Valstar MJ, Ruijter ...
  8. ... called heparan sulfate when the sugar N-acetylglucosamine-6-sulfate is located at the end. Mutations in the GNS gene cause mucopolysaccharidosis type IIID (MPS IIID). Most of these mutations change ...
  9. ... the GALNS gene have been found to cause mucopolysaccharidosis type IV (MPS IV). Most of ... 6-sulfatase.The lack of N-acetylgalactosamine 6-sulfatase ...
  10. ... acetyltransferase (HGSNAT) gene. Hum Mutat. 2009 Jun;30(6):918-25. doi: 10.1002/humu.20986. Review. Citation on PubMed Feldhammer M, Durand S, Pshezhetsky AV. Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. PLoS One. 2009 Oct 13;4(10): ...
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