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Year Number of Results
1965 1
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1974 1
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1993 2
1994 3
1995 3
1996 1
1997 1
1998 3
1999 2
2000 1
2002 3
2003 1
2004 4
2005 4
2006 3
2007 8
2008 10
2009 3
2010 4
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2012 5
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141 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.
There are 11 types of MPSs, whereby neuropathy may occur in seven of them (MPS I, II, IIIA, IIIB, IIIC, IIID and VII). Accumulation of degraded heparin sulfate in lysosomes causes cellular dysfunction and malfunction of several organs. ...Nonetheless, several geneti …
There are 11 types of MPSs, whereby neuropathy may occur in seven of them (MPS I, II, IIIA, IIIB, IIIC, IIID and VII). Accumul …
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. ...We will also highlight the main open issues related to the possible inclusion of MPS II in newborn screenings, the comprehension of brain pathogenesis, …
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) was first described by Dr. ...We will also highlight the …
[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. ...Their identification is essential to initiate early treatment, taking into account …
The mucopolysaccharidoses (MPS) are a group of rare (orphan) diseases, characterised by a deficiency of enzymes involved in the metab …
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. ...In 2006, the US Food and Drug Administration approved idursulfase for intravenous enzyme …
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is an X-linked condition caused by pathog …
A molecular genetics view on Mucopolysaccharidosis Type II.
Verma S, Pantoom S, Petters J, Pandey AK, Hermann A, Lukas J. Verma S, et al. Mutat Res Rev Mutat Res. 2021 Jul-Dec;788:108392. doi: 10.1016/j.mrrev.2021.108392. Epub 2021 Aug 8. Mutat Res Rev Mutat Res. 2021. PMID: 34893157 Review.
Mucopolysaccharidosis Type II (MPS II) is an X-linked recessive genetic disorder that primarily affects male patients. With an incidence of 1 in 100,000 male live births, the disease is one of the orphan diseases. MPS II symptoms are caus …
Mucopolysaccharidosis Type II (MPS II) is an X-linked recessive genetic disorder that primarily affects male pat …
Current and Future Treatment of Mucopolysaccharidosis (MPS) Type II: Is Brain-Targeted Stem Cell Gene Therapy the Solution for This Devastating Disorder?
Horgan C, Jones SA, Bigger BW, Wynn R. Horgan C, et al. Int J Mol Sci. 2022 Apr 27;23(9):4854. doi: 10.3390/ijms23094854. Int J Mol Sci. 2022. PMID: 35563245 Free PMC article. Review.
Mucopolysaccharidosis type II (Hunter Syndrome) is a rare, x-linked recessive, progressive, multi-system, lysosomal storage disease caused by the deficiency of iduronate-2-sulfatase (IDS), which leads to the pathological storage of glycosaminoglycans in nearly all c …
Mucopolysaccharidosis type II (Hunter Syndrome) is a rare, x-linked recessive, progressive, multi-system, lysosomal storage di …
Critical review of current MPS guidelines and management.
Stapleton M, Hoshina H, Sawamoto K, Kubaski F, Mason RW, Mackenzie WG, Theroux M, Kobayashi H, Yamaguchi S, Suzuki Y, Fukao T, Tadao O, Ida H, Tomatsu S. Stapleton M, et al. Mol Genet Metab. 2019 Mar;126(3):238-245. doi: 10.1016/j.ymgme.2018.07.001. Epub 2018 Jul 7. Mol Genet Metab. 2019. PMID: 30143438 Review.
In recent years, committees in three countries, Australia (2015), Japan (2017), and Brazil (2018) have adopted guidelines for the treatment of MPS II, sponsored and authorized by each government. As novel treatments for MPS including substrate reduction thera …
In recent years, committees in three countries, Australia (2015), Japan (2017), and Brazil (2018) have adopted guidelines for the treatment …
Gene Therapy for Mucopolysaccharidosis Type II-A Review of the Current Possibilities.
Zapolnik P, Pyrkosz A. Zapolnik P, et al. Int J Mol Sci. 2021 May 23;22(11):5490. doi: 10.3390/ijms22115490. Int J Mol Sci. 2021. PMID: 34070997 Free PMC article. Review.
Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder based on a mutation in the IDS gene that encodes iduronate 2-sulphatase. ...An alternative method of treatment that solves typical problems of enzyme replacement therapy is gene the …
Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder based on a mutation in the IDS gene that …
Differences in MPS I and MPS II Disease Manifestations.
Hampe CS, Yund BD, Orchard PJ, Lund TC, Wesley J, McIvor RS. Hampe CS, et al. Int J Mol Sci. 2021 Jul 23;22(15):7888. doi: 10.3390/ijms22157888. Int J Mol Sci. 2021. PMID: 34360653 Free PMC article. Review.
Mucopolysaccharidosis (MPS) type I and II are two closely related lysosomal storage diseases associated with disrupted glycosaminoglycan catabolism. ...Current treatment options for patients with MPS II are often restricted to enzyme replacement …
Mucopolysaccharidosis (MPS) type I and II are two closely related lysosomal storage diseases associated with disrupted …
Newborn screening in mucopolysaccharidoses.
Donati MA, Pasquini E, Spada M, Polo G, Burlina A. Donati MA, et al. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):126. doi: 10.1186/s13052-018-0552-3. Ital J Pediatr. 2018. PMID: 30442156 Free PMC article. Review.
It is recommended that mucopolysaccharidosis type I (MPS I) is included in the US newborn screening panel, and this is currently underway in some NBS programs in the world. ...Long-term follow-up of these infants, and of those detected with late-onset disorders, wil …
It is recommended that mucopolysaccharidosis type I (MPS I) is included in the US newborn screening panel, and this is current …
141 results