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1974 1
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1993 1
1995 1
1997 1
1998 2
2000 2
2001 1
2002 2
2003 1
2004 3
2005 2
2006 3
2007 5
2008 2
2009 1
2010 1
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2012 1
2013 4
2014 5
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85 results

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Page 1
Mucopolysaccharidosis III: Molecular basis and treatment.
Spahiu L, Behluli E, Peterlin B, Nefic H, Hadziselimovic R, Liehr T, Temaj G. Spahiu L, et al. Pediatr Endocrinol Diabetes Metab. 2021;27(3):201-208. doi: 10.5114/pedm.2021.109270. Pediatr Endocrinol Diabetes Metab. 2021. PMID: 34743503 Free PMC article. Review.
Here we provide an overview on known molecular basis of MPS in general, including enzyme defects and symptoms of MPS; however, the main focus is on MPS type III together with potential and perspective therapy-options....
Here we provide an overview on known molecular basis of MPS in general, including enzyme defects and symptoms of MPS; however, the main focu …
Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management.
Sawamoto K, Álvarez González JV, Piechnik M, Otero FJ, Couce ML, Suzuki Y, Tomatsu S. Sawamoto K, et al. Int J Mol Sci. 2020 Feb 23;21(4):1517. doi: 10.3390/ijms21041517. Int J Mol Sci. 2020. PMID: 32102177 Free PMC article. Review.
Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme. ...
Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the defici
Sanfilippo syndrome: consensus guidelines for clinical care.
Muschol N, Giugliani R, Jones SA, Muenzer J, Smith NJC, Whitley CB, Donnell M, Drake E, Elvidge K, Melton L, O'Neill C; MPS III Guideline Development Group. Muschol N, et al. Orphanet J Rare Dis. 2022 Oct 27;17(1):391. doi: 10.1186/s13023-022-02484-6. Orphanet J Rare Dis. 2022. PMID: 36303195 Free PMC article. Review.
Glycosaminoglycans and mucopolysaccharidosis type III.
Jakobkiewicz-Banecka J, Gabig-Ciminska M, Kloska A, Malinowska M, Piotrowska E, Banecka-Majkutewicz Z, Banecki B, Wegrzyn A, Wegrzyn G. Jakobkiewicz-Banecka J, et al. Front Biosci (Landmark Ed). 2016 Jun 1;21(7):1393-409. doi: 10.2741/4463. Front Biosci (Landmark Ed). 2016. PMID: 27100513 Free article. Review.
Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a lysosomal storage disease in which heparan sulfate is accumulated in lysosomes, as well as outside of cells, as the primary storage material. ...Central nervous system is predominantly aff
Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a lysosomal storage disease in which heparan sulfa
Novel therapies for mucopolysaccharidosis type III.
Seker Yilmaz B, Davison J, Jones SA, Baruteau J. Seker Yilmaz B, et al. J Inherit Metab Dis. 2021 Jan;44(1):129-147. doi: 10.1002/jimd.12316. Epub 2020 Sep 28. J Inherit Metab Dis. 2021. PMID: 32944950 Free PMC article. Review.
Mucopolysaccharidosis type III (MPS III) or Sanfilippo disease is an orphan inherited lysosomal storage disease and one of the most common MPS subtypes. ...Lessons from animal studies and clinical trials have highlighted the importance of an early therapy bef
Mucopolysaccharidosis type III (MPS III) or Sanfilippo disease is an orphan inherited lysosomal storage disease and one
Laronidase.
[No authors listed] [No authors listed] BioDrugs. 2002;16(4):316-8. doi: 10.2165/00063030-200216040-00009. BioDrugs. 2002. PMID: 12196045 Review.
The application will include 6-month data from the ongoing open-label Phase III extension study and also the 6-month data from the placebo-controlled part of the Phase III study. ...Mucopolysaccharidosis I is a rare autosomal recessive lysosomal storage disor …
The application will include 6-month data from the ongoing open-label Phase III extension study and also the 6-month data from the pl …
[Sanfilippo Syndrome].
Osipova LA, Kuzenkova LM, Namazova-Baranova LS, Gevorkyan AK, Podkletnova TV, Vashakmadze ND. Osipova LA, et al. Vestn Ross Akad Med Nauk. 2015;(4):419-27. Vestn Ross Akad Med Nauk. 2015. PMID: 26710524 Review. Russian.
Sanfilippo syndrome (mucopolysaccharidosis type III) is a lysosomal disorder caused by a defect in the catabolism of heparan sulfate. Mucopolysaccharidosis type III is the most common type of all mucopolysaccharidoses. ...
Sanfilippo syndrome (mucopolysaccharidosis type III) is a lysosomal disorder caused by a defect in the catabolism of heparan s …
Update of treatment for mucopolysaccharidosis type III (sanfilippo syndrome).
Kong W, Yao Y, Zhang J, Lu C, Ding Y, Meng Y. Kong W, et al. Eur J Pharmacol. 2020 Dec 5;888:173562. doi: 10.1016/j.ejphar.2020.173562. Epub 2020 Sep 16. Eur J Pharmacol. 2020. PMID: 32949598 Review.
Mucopolysaccharidosis III (Sanfilippo syndrome, MPS III) is caused by lysosomal enzyme deficiency, which is a rare autosomal recessive hereditary disease. For now, there is no approved treatment for MPS III despite lots of efforts providing new vision
Mucopolysaccharidosis III (Sanfilippo syndrome, MPS III) is caused by lysosomal enzyme deficiency, which is a rare auto
Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders.
Bigger BW, Begley DJ, Virgintino D, Pshezhetsky AV. Bigger BW, et al. Mol Genet Metab. 2018 Dec;125(4):322-331. doi: 10.1016/j.ymgme.2018.08.003. Epub 2018 Aug 10. Mol Genet Metab. 2018. PMID: 30145178 Free article. Review.
Mucopolysaccharidosis (MPS) disorders are caused by deficiencies in lysosomal enzymes, leading to impaired glycosaminoglycan (GAG) degradation. ...Heparan sulfate (HS) is one of the GAGs stored in patients with MPS I, II, and VII and the main GAG stored in patients with MP
Mucopolysaccharidosis (MPS) disorders are caused by deficiencies in lysosomal enzymes, leading to impaired glycosaminoglycan (GAG) de
85 results