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Year Number of Results
1963 2
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1972 3
1973 5
1974 5
1975 2
1976 3
1977 1
1978 2
1980 2
1981 1
1982 1
1984 1
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1994 1
1995 3
1996 2
1997 2
1998 3
1999 2
2000 1
2001 3
2003 1
2004 2
2005 1
2006 1
2007 5
2008 4
2009 1
2010 1
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126 results

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Page 1
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
Zanetti A, D'Avanzo F, AlSayed M, Brusius-Facchin AC, Chien YH, Giugliani R, Izzo E, Kasper DC, Lin HY, Lin SP, Pollard L, Singh A, Tonin R, Wood T, Morrone A, Tomanin R. Zanetti A, et al. Hum Mutat. 2021 Nov;42(11):1384-1398. doi: 10.1002/humu.24270. Epub 2021 Aug 23. Hum Mutat. 2021. PMID: 34387910 Free PMC article. Review.
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. ...
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused …
[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.
Their identification is essential to initiate early treatment, taking into account that multidisciplinary management and enzyme replacement therapy is available for MPS I (Hurler syndrome), MPS II (Hunter syndrome), MPS IV (Morquio syndrome), an …
Their identification is essential to initiate early treatment, taking into account that multidisciplinary management and enzyme replacement …
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 …
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 …
Morquio A syndrome: diagnosis and current and future therapies.
Tomatsu S, Yasuda E, Patel P, Ruhnke K, Shimada T, Mackenzie WG, Mason R, Thacker MM, Theroux M, Montaño AM, Alméciga-Díaz CJ, Barrera LA, Chinen Y, Sly WS, Rowan D, Suzuki Y, Orii T. Tomatsu S, et al. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1(0 1):141-51. Pediatr Endocrinol Rev. 2014. PMID: 25345096 Free PMC article. Review.
Morquio A syndrome is an autosomal recessive disorder, one of 50 lysosomal storage diseases (LSDs), and is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). ...The pathogenesis of systemic skeletal dysplasia in Morquio A syndro …
Morquio A syndrome is an autosomal recessive disorder, one of 50 lysosomal storage diseases (LSDs), and is caused by the defic …
Pectus carinatum.
Robicsek F, Watts LT. Robicsek F, et al. Thorac Surg Clin. 2010 Nov;20(4):563-74. doi: 10.1016/j.thorsurg.2010.07.007. Thorac Surg Clin. 2010. PMID: 20974441 Review.
Pectus carinatum is often associated with various conditions, notably Marfan disease, homocystinuria, prune belly, Morquio syndrome, osteogenesis imperfecta, Noonan syndrome, and mitral valve prolapse. ...
Pectus carinatum is often associated with various conditions, notably Marfan disease, homocystinuria, prune belly, Morquio syndrom …
A pictorial review of the radiographic skeletal findings in Morquio syndrome (mucopolysaccharidosis type IV).
Padash S, Obaid H, Henderson RDE, Padash Y, Adams SJ, Miller SF, Babyn P. Padash S, et al. Pediatr Radiol. 2023 May;53(5):971-983. doi: 10.1007/s00247-022-05585-3. Epub 2023 Jan 11. Pediatr Radiol. 2023. PMID: 36627376 Review.
Morquio syndrome, also known as Morquio-Brailsford syndrome or mucopolysaccharidosis type IV (MPS IV), is a subgroup of mucopolysaccharidosis. ...In MPS IVB, a deficiency in beta-galactosidase results in a milder phenotype t …
Morquio syndrome, also known as Morquio-Brailsford syndrome or mucopolysaccharidosis type IV (MPS …
Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment.
Tomatsu S, Montaño AM, Oikawa H, Smith M, Barrera L, Chinen Y, Thacker MM, Mackenzie WG, Suzuki Y, Orii T. Tomatsu S, et al. Curr Pharm Biotechnol. 2011 Jun;12(6):931-45. doi: 10.2174/138920111795542615. Curr Pharm Biotechnol. 2011. PMID: 21506915 Review.
Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio A, is a rare, autosomal recessive disorder caused by a deficiency of the lysosomal enzyme N-acetylgalatosamine-6-sulfate-sulfatase (GALNS), which catalyzes a step in the catabolism of glycosaminoglycans (GAG …
Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio A, is a rare, autosomal recessive disorder caused by a deficiency o …
Joint hypermobility syndromes.
Raff ML, Byers PH. Raff ML, et al. Curr Opin Rheumatol. 1996 Sep;8(5):459-66. doi: 10.1097/00002281-199609000-00012. Curr Opin Rheumatol. 1996. PMID: 8941450 Review.
Inherited connective tissue disorders, among them Ehlers-Danlos syndrome, osteogenesis imperfecta, Marfan syndrome, and Larsen syndrome, are characterized by generalized joint hypermobility. Others, such as Morquio syndrome or achondroplasia, ha …
Inherited connective tissue disorders, among them Ehlers-Danlos syndrome, osteogenesis imperfecta, Marfan syndrome, and Larsen …
Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.
Morrone A, Caciotti A, Atwood R, Davidson K, Du C, Francis-Lyon P, Harmatz P, Mealiffe M, Mooney S, Oron TR, Ryles A, Zawadzki KA, Miller N. Morrone A, et al. Hum Mutat. 2014 Nov;35(11):1271-9. doi: 10.1002/humu.22635. Epub 2014 Sep 17. Hum Mutat. 2014. PMID: 25137622 Free PMC article. Review.
Morquio A syndrome (mucopolysaccharidosis IVA) is an autosomal recessive disorder that results from deficient activity of the enzyme N-acetylgalactosamine-6-sulfatase (GALNS) due to alterations in the GALNS gene, which causes major skeletal and connective tis …
Morquio A syndrome (mucopolysaccharidosis IVA) is an autosomal recessive disorder that results from deficient activity …
126 results