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

Year Number of Results
1963 5
1964 2
1965 3
1966 5
1967 4
1968 5
1969 9
1970 12
1971 10
1972 7
1973 15
1974 14
1975 7
1976 18
1977 10
1978 10
1979 7
1980 7
1981 6
1982 12
1983 8
1984 4
1985 2
1986 6
1987 5
1988 7
1989 6
1990 7
1991 4
1992 7
1993 12
1994 8
1995 23
1996 5
1997 6
1998 23
1999 11
2000 11
2001 13
2002 13
2003 16
2004 12
2005 15
2006 16
2007 27
2008 25
2009 15
2010 19
2011 36
2012 23
2013 42
2014 42
2015 24
2016 33
2017 43
2018 47
2019 28
2020 55
2021 41
2022 38
2023 20
2024 6

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895 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.
Mucopolysaccharidosis are lysosomal storage diseases, secondary to the accumulation of mucopolysaccharides. ...In addition, specific enzyme replacement therapy exists for certain types of mucopolysaccharidosis. Role of clinician is important to evoke and diagnose
Mucopolysaccharidosis are lysosomal storage diseases, secondary to the accumulation of mucopolysaccharides. ...In addition, specific
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. ...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 is the only X-linked-inherited muco
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) was first described by Dr. ...MPS II is a rare genetic disorder, recently des
[Mucopolysaccharidosis: clinical features, diagnosis and management].
Suarez-Guerrero JL, Gómez Higuera PJ, Arias Flórez JS, Contreras-García GA. Suarez-Guerrero JL, et al. Rev Chil Pediatr. 2016 Jul-Aug;87(4):295-304. doi: 10.1016/j.rchipe.2015.10.004. Epub 2015 Nov 21. Rev Chil Pediatr. 2016. PMID: 26613630 Free article. Review. Spanish.
The mucopolysaccharidoses (MPS) are a group of rare (orphan) diseases, characterised by a deficiency of enzymes involved in the metabolism of glycosaminoglycans (GAGs) at lysosomal level. ...
The mucopolysaccharidoses (MPS) are a group of rare (orphan) diseases, characterised by a deficiency of enzymes involved in the metab …
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.
Mucopolysaccharidoses (MPSs) are known as rare genetic diseases which are caused by mutation in the enzyme heparin sulfate, which normally leads to degradation and accumulation of glycosaminoglycans in the cells. ...
Mucopolysaccharidoses (MPSs) are known as rare genetic diseases which are caused by mutation in the enzyme heparin sulfate, which nor
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
Mucopolysaccharidosis: A broad review.
Nagpal R, Goyal RB, Priyadarshini K, Kashyap S, Sharma M, Sinha R, Sharma N. Nagpal R, et al. Indian J Ophthalmol. 2022 Jul;70(7):2249-2261. doi: 10.4103/ijo.IJO_425_22. Indian J Ophthalmol. 2022. PMID: 35791104 Free PMC article. Review.
Mucopolysaccharidosis (MPS) is a group of genetic disorders with seven types and 13 subgroups which are characterized by an inherent deficiency of the enzymes responsible for the degradation of glycosaminoglycans (GAGs). ...
Mucopolysaccharidosis (MPS) is a group of genetic disorders with seven types and 13 subgroups which are characterized by an inherent
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.
Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology.
Hampe CS, Eisengart JB, Lund TC, Orchard PJ, Swietlicka M, Wesley J, McIvor RS. Hampe CS, et al. Cells. 2020 Aug 5;9(8):1838. doi: 10.3390/cells9081838. Cells. 2020. PMID: 32764324 Free PMC article. Review.
Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive inherited disease, caused by deficiency of the enzyme alpha-L-iduronidase, resulting in accumulation of the glycosaminoglycans (GAGs) dermatan and heparan sulfate in organs and tissues. ...
Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive inherited disease, caused by deficiency of the enzyme alpha-L-idur
Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States.
Ream MA, Lam WKK, Grosse SD, Ojodu J, Jones E, Prosser LA, Rosé AM, Comeau AM, Tanksley S, Powell CM, Kemper AR. Ream MA, et al. Genet Med. 2023 Feb;25(2):100330. doi: 10.1016/j.gim.2022.10.012. Epub 2022 Nov 29. Genet Med. 2023. PMID: 36445366 Free PMC article. Review.
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is an X-linked condition caused by pathogenic variants in the iduronate-2-sulfatase gene. ...
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is an X-linked condition caused by pathogenic variants in the
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. ...
Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A syndrome, is an inherited, lysosomal storage disorder caused by gen
895 results