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1977 1
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1999 1
2001 2
2003 2
2004 3
2005 2
2006 3
2007 6
2008 1
2009 2
2010 1
2011 4
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110 results

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Page 1
[Mucopolysaccharidosis: A review].
Michaud M, Belmatoug N, Catros F, Ancellin S, Touati G, Levade T, Gaches F. Michaud M, et al. Rev Med Interne. 2020 Mar;41(3):180-188. doi: 10.1016/j.revmed.2019.11.010. Epub 2020 Jan 17. Rev Med Interne. 2020. PMID: 31959364 Review. French.
Type 1 mucopolysaccharidosis is the most common form and affects between 0.69 and 1.66 newborns per 100,000. ...Role of clinician is important to evoke and diagnose mucopolysaccharidosis....
Type 1 mucopolysaccharidosis is the most common form and affects between 0.69 and 1.66 newborns per 100,000. ...
Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.
D'Avanzo F, Rigon L, Zanetti A, Tomanin R. D'Avanzo F, et al. Int J Mol Sci. 2020 Feb 13;21(4):1258. doi: 10.3390/ijms21041258. Int J Mol Sci. 2020. PMID: 32070051 Free PMC article. Review.
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) was first described by Dr. Charles Hunter in 1917. ...MPS II is a rare genetic disorder, recently described as presenting an incidence rate ranging from 0.38 to 1.09 per 100,000 live male births, and it
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) was first described by Dr. Charles Hunter in 1917. ...MPS II is a rare
Mucolipidoses Overview: Past, Present, and Future.
Khan SA, Tomatsu SC. Khan SA, et al. Int J Mol Sci. 2020 Sep 17;21(18):6812. doi: 10.3390/ijms21186812. Int J Mol Sci. 2020. PMID: 32957425 Free PMC article. Review.
Mucolipidosis II and III (ML II/III) are caused by a deficiency of uridine-diphosphate N-acetylglucosamine: lysosomal-enzyme-N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase, EC2.7.8.17), which tags lysosomal enzymes with a mannose 6-phosphate ( …
Mucolipidosis II and III (ML II/III) are caused by a deficiency of uridine-diphosphate N-acetylglucosamine: lysosomal-enzyme-N-acetylglucosa …
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.
Elosulfase alfa.
Haddley K. Haddley K. Drugs Today (Barc). 2014 Jul;50(7):475-83. doi: 10.1358/dot.2014.50.7.2177904. Drugs Today (Barc). 2014. PMID: 25101330 Review.
Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A syndrome, is an inherited, lysosomal storage disorder caused by genetic mutations in N-acetylgalactosamine-6-sulfatase (GALNS) enzyme gene. ...BioMarin Pharmaceutical developed elosulfase alfa, a reco
Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A syndrome, is an inherited, lysosomal storage disorder caused
Sulphamidase.
Anson DS, Bielicki J. Anson DS, et al. Int J Biochem Cell Biol. 1999 Mar-Apr;31(3-4):363-7. doi: 10.1016/s1357-2725(98)00148-4. Int J Biochem Cell Biol. 1999. PMID: 10224661 Review.
Deficiency of sulphamidase results in the lysosomal storage of the glycosaminoglycan (GAG) heparan sulphate (HS) and is termed mucopolysaccharidosis type IIIA (MPS IIIA). Sulphamidase catalyses the hydrolysis of an N-linked sulphate from the nonreducing terminal glu …
Deficiency of sulphamidase results in the lysosomal storage of the glycosaminoglycan (GAG) heparan sulphate (HS) and is termed mucopolysa
Global epidemiology of mucopolysaccharidosis type III (Sanfilippo syndrome): an updated systematic review and meta-analysis.
Kong W, Wu S, Zhang J, Lu C, Ding Y, Meng Y. Kong W, et al. J Pediatr Endocrinol Metab. 2021 Jul 19;34(10):1225-1235. doi: 10.1515/jpem-2020-0742. Print 2021 Oct 26. J Pediatr Endocrinol Metab. 2021. PMID: 34271605
Meta-analysis, adopting a random effects logistic model, was performed to estimate pooled birth prevalence of mucopolysaccharidosis III and its subtypes. RESULTS: Twenty-five studies screened out of 1,826 records were included for data extraction. The pooled global …
Meta-analysis, adopting a random effects logistic model, was performed to estimate pooled birth prevalence of mucopolysaccharidosis I …
Cognitive outcomes and age of detection of severe mucopolysaccharidosis type 1.
Grosse SD, Lam WKK, Wiggins LD, Kemper AR. Grosse SD, et al. Genet Med. 2017 Sep;19(9):975-982. doi: 10.1038/gim.2016.223. Epub 2017 Jan 26. Genet Med. 2017. PMID: 28125077 Free PMC article. Review.
The US Secretary of Health and Human Services recommended in February 2016 that mucopolysaccharidosis type 1 (MPS I) be added to the recommended uniform screening panel for state newborn screening programs. ...
The US Secretary of Health and Human Services recommended in February 2016 that mucopolysaccharidosis type 1 (MPS I) be …
The diagnosis and management of mucopolysaccharidosis type II.
Mao SJ, Chen QQ, Dai YL, Dong GP, Zou CC. Mao SJ, et al. Ital J Pediatr. 2024 Oct 8;50(1):207. doi: 10.1186/s13052-024-01769-9. Ital J Pediatr. 2024. PMID: 39380047 Free PMC article. Review.
Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive inherited lysosomal storage disease. ...
Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive inherited lysosomal storage disease. ...
Anesthesiological risks in mucopolysaccharidoses.
Moretto A, Bosatra MG, Marchesini L, Tesoro S. Moretto A, et al. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):116. doi: 10.1186/s13052-018-0554-1. Ital J Pediatr. 2018. PMID: 30442160 Free PMC article. Review.
METHODS: A query of the PubMed database specific for "anesthesia" and "mucopolysaccharidosis" and a further query specific for "mucopolysaccharidosis and difficult airway management" was conducted. ...An accurate preoperative evaluation and the need for an experienc …
METHODS: A query of the PubMed database specific for "anesthesia" and "mucopolysaccharidosis" and a further query specific for "mu
110 results