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Items: 1 to 20 of 314

1.

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.

2.

[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
3.

Reversed papilledema in an MPS VI patient with galsulfase (Naglazyme) therapy.

Koseoglu ST, Harmatz P, Turbeville S, Nicely H.

Int Ophthalmol. 2009 Aug;29(4):267-9. doi: 10.1007/s10792-008-9213-7. Epub 2008 Apr 17.

6.

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
7.

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
8.

Thrombocytopenia associated with galsulfase treatment.

Doğan M, Cesur Y, Peker E, Oner AF, Dogan SZ.

Hum Exp Toxicol. 2011 Jul;30(7):768-71. doi: 10.1177/0960327110379023. Epub 2010 Jul 29.

PMID:
20670992
9.

Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome.

Jester S, Larsson J, Eklund EA, Papadopoulou D, Månsson JE, Békássy AN, Turkiewicz D, Toporski J, Øra I.

Orphanet J Rare Dis. 2013 Sep 5;8:134. doi: 10.1186/1750-1172-8-134.

10.

Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI.

Bartolomeo R, Polishchuk EV, Volpi N, Polishchuk RS, Auricchio A.

J Inherit Metab Dis. 2013 Mar;36(2):363-71. doi: 10.1007/s10545-012-9521-y. Epub 2012 Sep 13.

11.

Abnormal granulation of blood granulocytes in mucopolysaccharidosis VI-a case report.

Krishnagiri C, Ajanahalli RR, Kashyap S, Anegundi R, Boranaik L.

Ann Diagn Pathol. 2013 Feb;17(1):137-9. doi: 10.1016/j.anndiagpath.2011.07.009. Epub 2011 Nov 4.

PMID:
22056033
12.

Mucopolysaccharidosis Type II.

Scarpa M.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2007 Nov 6 [updated 2015 Mar 26].

14.

Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes.

Crawley AC, Yogalingam G, Muller VJ, Hopwood JJ.

J Clin Invest. 1998 Jan 1;101(1):109-19.

16.
17.

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.

Brands MM, Hoogeveen-Westerveld M, Kroos MA, Nobel W, Ruijter GJ, Özkan L, Plug I, Grinberg D, Vilageliu L, Halley DJ, van der Ploeg AT, Reuser AJ.

Orphanet J Rare Dis. 2013 Apr 4;8:51. doi: 10.1186/1750-1172-8-51.

18.

Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.

Mendelsohn NJ, Wood T, Olson RA, Temme R, Hale S, Zhang H, Read L, White KK.

JIMD Rep. 2013;11:125-32. doi: 10.1007/8904_2013_231. Epub 2013 May 9.

19.
20.

Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients.

Lin WD, Lin SP, Wang CH, Hwu WL, Chuang CK, Lin SJ, Tsai Y, Chen CP, Tsai FJ.

Clin Chim Acta. 2008 Aug;394(1-2):89-93. doi: 10.1016/j.cca.2008.04.014. Epub 2008 Apr 27.

PMID:
18486607
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