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Results 1 - 10 of 10 for Mucopolysaccharidosis type 6
  1. Mucopolysaccharidosis type VI 
    ... 6 Mucopolysaccharidosis VI Polydystrophic dwarfism Genetic Testing Registry: Mucopolysaccharidosis type 6 Mucopolysaccharidosis type 6 National Organization for Rare Disorders ( ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-vi - Genetics
  2. ARSB gene 
    ... 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: ...
    https://medlineplus.gov/genetics/gene/arsb - Genetics
  3. Mucopolysaccharidosis type II 
    ... 2022 Nov 29. Citation on PubMed Scarpa M. Mucopolysaccharidosis Type II. 2007 Nov 6 [updated 2024 Apr 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. ... Bodamer OA. Mucopolysaccharidosis type II in females: case report and review of ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-ii - Genetics
  4. IDS gene 
    ... peds.2007-1350. Citation on PubMed Scarpa M. Mucopolysaccharidosis Type II. 2007 Nov 6 [updated 2024 Apr 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(R) ... type II (Hunter syndrome): a clinical review and recommendations ...
    https://medlineplus.gov/genetics/gene/ids - Genetics
  5. SGSH gene 
    ... of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A. Hum Mutat. 2004 Jun;23(6):559-66. doi: 10.1002/humu.20037. Citation ...
    https://medlineplus.gov/genetics/gene/sgsh - Genetics
  6. GNS gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/gns - Genetics
  7. GALNS gene 
    ... the GALNS gene have been found to cause mucopolysaccharidosis type IV (MPS IV). Most of ... 6-sulfatase.The lack of N-acetylgalactosamine 6-sulfatase ...
    https://medlineplus.gov/genetics/gene/galns - Genetics
  8. Mucopolysaccharidosis type IV 
    ... IVA (Morquio A). Hum Mutat. 2005 Dec;26(6):500-12. doi: 10.1002/humu.20257. Citation on PubMed
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-iv - Genetics
  9. HGSNAT gene 
    ... acetyltransferase (HGSNAT) gene. Hum Mutat. 2009 Jun;30(6):918-25. doi: 10.1002/humu.20986. 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): ...
    https://medlineplus.gov/genetics/gene/hgsnat - Genetics
  10. NAGLU gene 
    ... Structural and mechanistic insight into the basis of mucopolysaccharidosis IIIB. Proc ... EF. Sanfilippo syndrome type B, a lysosomal storage disease, is also a ...
    https://medlineplus.gov/genetics/gene/naglu - Genetics