Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1971 1
1976 1
1978 2
1980 4
1981 3
1982 3
1983 2
1984 1
1986 4
1987 3
1988 3
1990 1
1992 2
1993 1
1994 2
1995 3
1996 4
1997 5
1998 4
1999 3
2000 3
2001 3
2002 3
2003 2
2004 7
2005 5
2006 8
2007 5
2008 3
2009 5
2010 7
2011 15
2012 15
2013 20
2014 17
2015 10
2016 21
2017 18
2018 20
2019 11
2020 11
2021 16
2022 16
2023 8
2024 7

Text availability

Article attribute

Article type

Publication date

Search Results

271 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Mucopolysaccharidosis, MPS-III-C"
Page 1
Epidemiology of mucopolysaccharidoses.
Khan SA, Peracha H, Ballhausen D, Wiesbauer A, Rohrbach M, Gautschi M, Mason RW, Giugliani R, Suzuki Y, Orii KE, Orii T, Tomatsu S. Khan SA, et al. Mol Genet Metab. 2017 Jul;121(3):227-240. doi: 10.1016/j.ymgme.2017.05.016. Epub 2017 May 26. Mol Genet Metab. 2017. PMID: 28595941 Free PMC article.
The highest birth prevalence was 0.84 for MPS II, accounting for 55% of all MPS. MPS I, III, and IV accounted for 15, 16, and 10%, respectively. MPS VI and VII were more rare and accounted for 1.7 and 1.3%, respectively. ...Birth prevalence of MPS II in Switzerland and oth …
The highest birth prevalence was 0.84 for MPS II, accounting for 55% of all MPS. MPS I, III, and IV accounted for 15, 16, and 10%, re …
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.
Treatment of brain disease in the mucopolysaccharidoses.
Scarpa M, Orchard PJ, Schulz A, Dickson PI, Haskins ME, Escolar ML, Giugliani R. Scarpa M, et al. Mol Genet Metab. 2017 Dec;122S:25-34. doi: 10.1016/j.ymgme.2017.10.007. Epub 2017 Oct 16. Mol Genet Metab. 2017. PMID: 29153844 Free article. Review.
The mucopolysaccharidosis (MPS) disorders are a group of lysosomal storage diseases caused by lysosomal enzyme deficits that lead to glycosaminoglycan accumulation, affecting various tissues throughout the body based on the specific enzyme deficiency. ...There are establis …
The mucopolysaccharidosis (MPS) disorders are a group of lysosomal storage diseases caused by lysosomal enzyme deficits that lead to …
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 …
Diagnosing mucopolysaccharidosis IVA.
Wood TC, Harvey K, Beck M, Burin MG, Chien YH, Church HJ, D'Almeida V, van Diggelen OP, Fietz M, Giugliani R, Harmatz P, Hawley SM, Hwu WL, Ketteridge D, Lukacs Z, Miller N, Pasquali M, Schenone A, Thompson JN, Tylee K, Yu C, Hendriksz CJ. Wood TC, et al. J Inherit Metab Dis. 2013 Mar;36(2):293-307. doi: 10.1007/s10545-013-9587-1. Epub 2013 Feb 1. J Inherit Metab Dis. 2013. PMID: 23371450 Free PMC article.
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. ...Additional analyses to confirm sample integrity and rule out MPS IVB, …
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficie …
Mucopolysaccharidoses and the eye.
Ashworth JL, Biswas S, Wraith E, Lloyd IC. Ashworth JL, et al. Surv Ophthalmol. 2006 Jan-Feb;51(1):1-17. doi: 10.1016/j.survophthal.2005.11.007. Surv Ophthalmol. 2006. PMID: 16414358 Review.
They have been subdivided according to enzyme defect and systemic manifestations and include MPS IH (Hurler), MPS IS (Scheie), MPS IH/S (Hurler/Sheie), MPS II (Hunter), MPS III (Sanfilippo), MPS IV (Morquio), MPS VI (Maroteaux-Lamy), MPS VII (Sly) and MPS IX (Natowicz). .. …
They have been subdivided according to enzyme defect and systemic manifestations and include MPS IH (Hurler), MPS IS (Scheie), MPS IH/S (Hur …
Practical management of behavioral problems in mucopolysaccharidoses disorders.
Escolar ML, Jones SA, Shapiro EG, Horovitz DDG, Lampe C, Amartino H. Escolar ML, et al. Mol Genet Metab. 2017 Dec;122S:35-40. doi: 10.1016/j.ymgme.2017.09.010. Epub 2017 Sep 27. Mol Genet Metab. 2017. PMID: 29170079 Free article. Review.
The mucopolysaccharidosis (MPS) disorders are caused by deficiencies of specific lysosomal enzymes, resulting in progressive glycosaminoglycan (GAG) accumulation in cells and tissues throughout the body. ...Behavioral problems (like hyperactivity, attention difficulties, a …
The mucopolysaccharidosis (MPS) disorders are caused by deficiencies of specific lysosomal enzymes, resulting in progressive glycosam …
Hip pathologies in mucopolysaccharidosis type III.
Breyer SR, Vettorazzi E, Schmitz L, Gulati A, von Cossel KM, Spiro A, Rupprecht M, Stuecker R, Muschol NM. Breyer SR, et al. J Orthop Surg Res. 2021 Mar 19;16(1):201. doi: 10.1186/s13018-021-02340-6. J Orthop Surg Res. 2021. PMID: 33741007 Free PMC article.
BACKGROUND: Mucopolysaccharidosis type III (MPS III) comprises a group of rare lysosomal storage diseases. Although musculoskeletal symptoms are less pronounced than in other MPS subtypes, pathologies of hip and spine have been reported in MPS III pati …
BACKGROUND: Mucopolysaccharidosis type III (MPS III) comprises a group of rare lysosomal storage diseases. Although mus …
Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study.
Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D; HGT-HIT-094 Study Group. Muenzer J, et al. Mol Genet Metab. 2022 Sep-Oct;137(1-2):127-139. doi: 10.1016/j.ymgme.2022.07.017. Epub 2022 Aug 2. Mol Genet Metab. 2022. PMID: 36027721 Free PMC article. Clinical Trial.
Two-thirds of patients with mucopolysaccharidosis II (MPS II; Hunter syndrome) have cognitive impairment. ...
Two-thirds of patients with mucopolysaccharidosis II (MPS II; Hunter syndrome) have cognitive impairment. ...
Mucopolysaccharidosis III (Sanfilippo Syndrome)- disease presentation and experimental therapies.
Gilkes JA, Heldermon CD. Gilkes JA, et al. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:133-40. Pediatr Endocrinol Rev. 2014. PMID: 25345095 Review.
Sanfilippo Syndrome or Mucopolysaccharidosis Ill (MPS Ill) is a group of lysosomal storage diseases resulting from a deficiency of one of four lysosomal enzymes: Type A - heparan N-sulfatase (SGSH), Type B - a-N-acetylglucosaminidase (NAGLU), Type C - acetyl CoA a-glucosam …
Sanfilippo Syndrome or Mucopolysaccharidosis Ill (MPS Ill) is a group of lysosomal storage diseases resulting from a deficiency of on …
271 results