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Items: 1 to 20 of 101

1.

Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series.

Thümler A, Miebach E, Lampe C, Pitz S, Kamin W, Kampmann C, Link B, Mengel E.

J Inherit Metab Dis. 2012 Nov;35(6):1071-9. doi: 10.1007/s10545-012-9474-1. Epub 2012 Mar 23.

PMID:
22441840
3.

[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI].

Zheng J, Huang Y, Zhao X, Sheng H, Cheng J, Zhou Z, Li X, Mao X, Liu L.

Zhonghua Er Ke Za Zhi. 2014 Jun;52(6):403-8. Chinese.

PMID:
25190157
4.

Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)--10-year follow-up of patients who previously participated in an MPS VI Survey Study.

Giugliani R, Lampe C, Guffon N, Ketteridge D, Leão-Teles E, Wraith JE, Jones SA, Piscia-Nichols C, Lin P, Quartel A, Harmatz P.

Am J Med Genet A. 2014 Aug;164A(8):1953-64. doi: 10.1002/ajmg.a.36584. Epub 2014 Apr 24.

5.

Mucopolysaccharidosis VI.

Valayannopoulos V, Nicely H, Harmatz P, Turbeville S.

Orphanet J Rare Dis. 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. Review.

6.

Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP).

Hendriksz CJ, Giugliani R, Harmatz P, Lampe C, Martins AM, Pastores GM, Steiner RD, Leão Teles E, Valayannopoulos V; CSP Study Group.

J Inherit Metab Dis. 2013 Mar;36(2):373-84. doi: 10.1007/s10545-011-9410-9. Epub 2011 Nov 30.

PMID:
22127392
7.

Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene.

Jurecka A, Zakharova E, Cimbalistiene L, Gusina N, Kulpanovich A, Golda A, Opoka-Winiarska V, Piotrowska E, Voskoboeva E, Tylki-Szymańska A.

Am J Med Genet A. 2013 Jun;161A(6):1291-9. doi: 10.1002/ajmg.a.35905. Epub 2013 Apr 30.

PMID:
23633437
8.

Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment.

Harmatz P, Shediac R.

Front Biosci (Landmark Ed). 2017 Jan 1;22:385-406. Review.

PMID:
27814620
9.

Expert recommendations for the laboratory diagnosis of MPS VI.

Wood T, Bodamer OA, Burin MG, D'Almeida V, Fietz M, Giugliani R, Hawley SM, Hendriksz CJ, Hwu WL, Ketteridge D, Lukacs Z, Mendelsohn NJ, Miller N, Pasquali M, Schenone A, Schoonderwoerd K, Winchester B, Harmatz P.

Mol Genet Metab. 2012 May;106(1):73-82. doi: 10.1016/j.ymgme.2012.02.005. Epub 2012 Feb 10.

PMID:
22405600
10.

Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

Swiedler SJ, Beck M, Bajbouj M, Giugliani R, Schwartz I, Harmatz P, Wraith JE, Roberts J, Ketteridge D, Hopwood JJ, Guffon N, Sá Miranda MC, Teles EL, Berger KI, Piscia-Nichols C.

Am J Med Genet A. 2005 Apr 15;134A(2):144-50.

PMID:
15690405
11.

Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.

Brunelli MJ, Atallah ÁN, da Silva EM.

Cochrane Database Syst Rev. 2016 Mar 4;3:CD009806. doi: 10.1002/14651858.CD009806.pub2. Review.

PMID:
26943923
12.

Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.

Jurecka A, Zakharova E, Malinova V, Voskoboeva E, Tylki-Szymańska A.

Clin Rheumatol. 2014 May;33(5):725-31. doi: 10.1007/s10067-013-2423-z. Epub 2013 Nov 13. Review.

13.

Up to five years experience with 11 mucopolysaccharidosis type VI patients.

Brands MM, Oussoren E, Ruijter GJ, Vollebregt AA, van den Hout HM, Joosten KF, Hop WC, Plug I, van der Ploeg AT.

Mol Genet Metab. 2013 May;109(1):70-6. doi: 10.1016/j.ymgme.2013.02.013. Epub 2013 Mar 4.

PMID:
23523338
15.

Corneal hysteresis in mucopolysaccharidosis I and VI.

Fahnehjelm KT, Chen E, Winiarski J.

Acta Ophthalmol. 2012 Aug;90(5):445-8. doi: 10.1111/j.1755-3768.2010.02085.x. Epub 2011 Jan 14.

16.

Pharmacodynamics, pharmacokinetics and biodistribution of recombinant human N-acetylgalactosamine 4-sulfatase after 6months of therapy in cats using different IV infusion durations.

Ruane T, Haskins M, Cheng A, Wang P, Aguirre G, Knox VW 4th, Qi Y, Tompkins T, O'Neill CA.

Mol Genet Metab. 2016 Feb;117(2):157-63. doi: 10.1016/j.ymgme.2015.10.006. Epub 2015 Oct 21.

17.

Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series.

Lin HY, Chuang CK, Wang CH, Chien YH, Wang YM, Tsai FJ, Chou YY, Lin SJ, Pan HP, Niu DM, Hwu WL, Ke YY, Lin SP.

Mol Genet Metab Rep. 2016 Apr 18;7:63-9. doi: 10.1016/j.ymgmr.2016.04.003. eCollection 2016 Jun.

18.

[Mucopolysaccharidosis type VI: clinical aspects, diagnosis and treatment with enzyme replacement therapy].

Politei J, Schenone A, Blanco M, Szlago M.

Arch Argent Pediatr. 2014 Jun;112(3):258-62. doi: 10.1590/S0325-00752014000300011. Spanish.

19.

Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI.

Horovitz DD, Magalhães TS, Acosta A, Ribeiro EM, Giuliani LR, Palhares DB, Kim CA, de Paula AC, Kerstenestzy M, Pianovski MA, Costa MI, Santos FC, Martins AM, Aranda CS, Correa Neto J, Holanda GB, Cardoso L Jr, da Silva CA, Bonatti RC, Ribeiro BF, Rodrigues Mdo C, Llerena JC Jr.

Mol Genet Metab. 2013 May;109(1):62-9. doi: 10.1016/j.ymgme.2013.02.014. Epub 2013 Mar 5.

20.

Mutational analysis of 105 mucopolysaccharidosis type VI patients.

Karageorgos L, Brooks DA, Pollard A, Melville EL, Hein LK, Clements PR, Ketteridge D, Swiedler SJ, Beck M, Giugliani R, Harmatz P, Wraith JE, Guffon N, Leão Teles E, Sá Miranda MC, Hopwood JJ.

Hum Mutat. 2007 Sep;28(9):897-903.

PMID:
17458871

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