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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 …
Mucopolysaccharidosis VI (MPS VI), or Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder cau …
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 …
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 treatment …
Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) is an inborn error of metabolism, with incidences at bi …
Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management.
Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, Ponder KP, Roberts WC, Rosenfeld HM, Giugliani R. Braunlin EA, et al. J Inherit Metab Dis. 2011 Dec;34(6):1183-97. doi: 10.1007/s10545-011-9359-8. Epub 2011 Jul 9. J Inherit Metab Dis. 2011. PMID: 21744090 Free PMC article. Review.
Cardiac involvement has been reported in all MPS syndromes and is a common and early feature, particularly for those with MPS I, II, and VI. Cardiac valve thickening, dysfunction (more severe for left-sided than for right-sided valves), and hypertrophy are commonly present …
Cardiac involvement has been reported in all MPS syndromes and is a common and early feature, particularly for those with MPS I, II, and …
Management guidelines for mucopolysaccharidosis VI.
Giugliani R, Harmatz P, Wraith JE. Giugliani R, et al. Pediatrics. 2007 Aug;120(2):405-18. doi: 10.1542/peds.2006-2184. Pediatrics. 2007. PMID: 17671068 Review.
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is a lysosomal storage disease that is characterized by systemic clinical manifestations and significant functional impairment. ...In support of this goal, comprehensive management guidelines have been drafted by an …
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is a lysosomal storage disease that is characterized by systemic clinical m …
Treatment of lysosomal storage diseases: recent patents and future strategies.
Ortolano S, Viéitez I, Navarro C, Spuch C. Ortolano S, et al. Recent Pat Endocr Metab Immune Drug Discov. 2014 Jan;8(1):9-25. doi: 10.2174/1872214808666140115111350. Recent Pat Endocr Metab Immune Drug Discov. 2014. PMID: 24433521 Review.
LSDs patient's clinical outcomes have significantly improved, since the advent of enzyme replacement therapy (ERT). ERT is approved worldwide for 6 LSDs: Gaucher disease, Fabry disease, Mucopolysaccharidosis types I, II, and VI, and Pompe disease. ...Obstacle …
LSDs patient's clinical outcomes have significantly improved, since the advent of enzyme replacement therapy (ERT). ERT is approved w …
Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis.
Herbst ZM, Hong X, Urdaneta L, Klein T, Waggoner C, Liao HC, Kubaski F, Giugliani R, Fuller M, Gelb MH. Herbst ZM, et al. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107632. doi: 10.1016/j.ymgme.2023.107632. Epub 2023 Jun 24. Mol Genet Metab. 2023. PMID: 37407323
Our previous publications on glycosaminoglycan (GAG) biomarker levels in DBS for mucopolysaccharidosis type 1 (MPS-I) and MPS-II demonstrated that second-tier GAG biomarker analysis can dramatically reduce the false positive rate in NBS. ...We obtained newborn DBS from pat …
Our previous publications on glycosaminoglycan (GAG) biomarker levels in DBS for mucopolysaccharidosis type 1 (MPS-I) and MPS-II demo …
A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI.
Solanki GA, Alden TD, Burton BK, Giugliani R, Horovitz DD, Jones SA, Lampe C, Martin KW, Ryan ME, Schaefer MK, Siddiqui A, White KK, Harmatz P. Solanki GA, et al. Mol Genet Metab. 2012 Sep;107(1-2):15-24. doi: 10.1016/j.ymgme.2012.07.018. Epub 2012 Jul 21. Mol Genet Metab. 2012. PMID: 22938833 Free article. Review.
Cervical cord compression is a sequela of mucopolysaccharidosis VI, a rare lysosomal storage disorder, and has devastating consequences. ...All patients with MPS VI require expert airway management during any surgical procedure. ...
Cervical cord compression is a sequela of mucopolysaccharidosis VI, a rare lysosomal storage disorder, and has devastating con …
Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region.
Hwu WL, Okuyama T, But WM, Estrada S, Gu X, Hui J, Kosuga M, Lin SP, Ngu LH, Shi H, Tanaka A, Thong MK, Wattanasirichaigoon D, Wasant P, McGill J. Hwu WL, et al. Mol Genet Metab. 2012 Sep;107(1-2):136-44. doi: 10.1016/j.ymgme.2012.07.019. Epub 2012 Jul 20. Mol Genet Metab. 2012. PMID: 22864057
INTRODUCTION: Mucopolysaccharidosis (MPS) type VI (Maroteaux-Lamy syndrome) is a clinically heterogeneous lysosomal storage disorder. ...CONCLUSIONS: This survey highlights differences in the diagnosis and management of MPS VI between Asia-Pacific countries/r …
INTRODUCTION: Mucopolysaccharidosis (MPS) type VI (Maroteaux-Lamy syndrome) is a clinically heterogeneous lysosomal storage di …
Delivering genetic education and genetic counseling for rare diseases in rural Brazil.
Acosta AX, Abé-Sandes K, Giugliani R, Bittles AH. Acosta AX, et al. J Genet Couns. 2013 Dec;22(6):830-4. doi: 10.1007/s10897-013-9570-x. Epub 2013 Jan 22. J Genet Couns. 2013. PMID: 23338802
Brazil is the largest country in Latin America, with an ethnically diverse, Portuguese-speaking and predominantly Roman Catholic population of some 194 million. Universal health care is provided under the Federal Unified Health System (Sistema Unico de Saude) but, as in ma …
Brazil is the largest country in Latin America, with an ethnically diverse, Portuguese-speaking and predominantly Roman Catholic population …
47 results