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Year Number of Results
1974 1
1976 4
1977 1
1978 1
1980 1
1982 1
1983 1
1992 1
1993 1
1995 1
1998 2
2000 1
2001 2
2002 2
2003 2
2004 3
2005 3
2006 1
2007 3
2009 2
2010 2
2011 3
2012 5
2013 5
2014 8
2015 2
2016 4
2017 1
2018 4
2019 1
2020 2
2021 4
2022 3
2023 0

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69 results

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Page 1
[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.
Diagnosis is based on knowledge of the clinical manifestations, performing biochemical analyses to identify the type of GAG that is accumulating, and confirm the type of disorder with the corresponding enzymatic determination. Their identification is essential to in …
Diagnosis is based on knowledge of the clinical manifestations, performing biochemical analyses to identify the type of GAG that is a …
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.
Tomanin R, Karageorgos L, Zanetti A, Al-Sayed M, Bailey M, Miller N, Sakuraba H, Hopwood JJ. Tomanin R, et al. Hum Mutat. 2018 Dec;39(12):1788-1802. doi: 10.1002/humu.23613. Epub 2018 Sep 17. Hum Mutat. 2018. PMID: 30118150 Free PMC article. Review.
Maroteaux-Lamy syndrome (MPS VI) is an autosomal recessive lysosomal storage disorder caused by pathogenic ARSB gene variants, commonly diagnosed through clinical findings and deficiency of the arylsulfatase B (ASB) enzyme. ...Variants analyzed were sent to ClinVar (https: …
Maroteaux-Lamy syndrome (MPS VI) is an autosomal recessive lysosomal storage disorder caused by pathogenic ARSB gene variants, common …
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.
Newborn screening (NBS) methods and therapeutic options have become increasingly available for mucopolysaccharidoses (MPS), and there is a clear evidence that early intervention significantly improves the outcome. It is recommended that mucopolysaccharidosis type I …
Newborn screening (NBS) methods and therapeutic options have become increasingly available for mucopolysaccharidoses (MPS), and there is a c …
Mucopolysaccharidosis type VI: a cardiologist's guide to diagnosis and treatment.
Golda A, Jurecka A, Opoka-Winiarska V, Tylki-Szymańska A. Golda A, et al. Int J Cardiol. 2013 Jul 15;167(1):1-10. doi: 10.1016/j.ijcard.2012.05.115. Epub 2012 Jun 16. Int J Cardiol. 2013. PMID: 22704873 Review.
Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) is an inborn error of metabolism, with incidences at birth ranging from 1 in 1.5 million to 1 in 43,000 live births. ...This article reviews the clinical features, diagnostic tests and tre …
Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) is an inborn error of metabolism, with incidence …
Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.
D'Avanzo F, Zanetti A, De Filippis C, Tomanin R. D'Avanzo F, et al. Int J Mol Sci. 2021 Dec 15;22(24):13456. doi: 10.3390/ijms222413456. Int J Mol Sci. 2021. PMID: 34948256 Free PMC article. Review.
Mucopolysaccharidosis type VI, or Maroteaux-Lamy syndrome, is a rare, autosomal recessive genetic disease, mainly affecting the pediatric age group. ...
Mucopolysaccharidosis type VI, or Maroteaux-Lamy syndrome, is a rare, autosomal recessive genetic disease, mainly affec …
The first mucopolysaccharidosis type VII in a Taiwanese girl: A case report and review of the literature.
Lee CL, Chuang CK, Hsu CH, Chiu HC, Tu RY, Lo YT, Chang YH, Lin HY, Lin SP. Lee CL, et al. J Formos Med Assoc. 2022 Mar;121(3):712-717. doi: 10.1016/j.jfma.2021.07.024. Epub 2021 Aug 20. J Formos Med Assoc. 2022. PMID: 34420841 Free article. Review.
The present study included the first case of mucopolysaccharidosis (MPS) type VII in Taiwan. During pregnancy, the patient was diagnosed with hydrops fetalis and had ascites aspiration 4 times. ...The leukocyte enzymatic analyses for MPS I, MPS II, MPS IIIB, MPS IVA …
The present study included the first case of mucopolysaccharidosis (MPS) type VII in Taiwan. During pregnancy, the patient was …
Mucopolysaccharidosis VI.
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S. Valayannopoulos V, et al. Orphanet J Rare Dis. 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. Orphanet J Rare Dis. 2010. PMID: 20385007 Free PMC article. Review.
Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading to the accumulation of dermatan sulfate. ...Other clinical findings may include cardiac valve di …
Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated w …
Therapy for the mucopolysaccharidoses.
Valayannopoulos V, Wijburg FA. Valayannopoulos V, et al. Rheumatology (Oxford). 2011 Dec;50 Suppl 5:v49-59. doi: 10.1093/rheumatology/ker396. Rheumatology (Oxford). 2011. PMID: 22210671 Review.
Better understanding of disease pathophysiology, improved supportive care and availability of disease-specific treatments for some of the mucopolysaccharidosis (MPS) disorders have greatly improved the outlook for patients with MPS disorders. ...Enzyme replacement therapy …
Better understanding of disease pathophysiology, improved supportive care and availability of disease-specific treatments for some of the …
Mucopolysaccharidoses: overview of neuroimaging manifestations.
Nicolas-Jilwan M, AlSayed M. Nicolas-Jilwan M, et al. Pediatr Radiol. 2018 Sep;48(10):1503-1520. doi: 10.1007/s00247-018-4139-3. Epub 2018 May 11. Pediatr Radiol. 2018. PMID: 29752520 Review.
Mucopolysaccharidoses include eight individual disorders (IS [Scheie syndrome], IH [Hurler syndrome], II, III, IV, VI, VII and IX). They have autosomal-recessive transmission with the exception of mucopolysaccharidosis II, which is X-linked. ...
Mucopolysaccharidoses include eight individual disorders (IS [Scheie syndrome], IH [Hurler syndrome], II, III, IV, VI, VII and IX). T …
Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment.
Harmatz P, Shediac R. Harmatz P, et al. Front Biosci (Landmark Ed). 2017 Jan 1;22(3):385-406. doi: 10.2741/4490. Front Biosci (Landmark Ed). 2017. PMID: 27814620 Free article. Review.
Mucopolysaccharidosis VI (MPS VI), or Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by deficient activity of the enzyme arylsulfatase B (ASB). ...The management of MPS VI involves enzyme replacement therapy and me …
Mucopolysaccharidosis VI (MPS VI), or Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder cau …
69 results