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Items: 1 to 20 of 210

1.

Practical and reliable enzyme test for the detection of mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples.

Camelier MV, Burin MG, De Mari J, Vieira TA, Marasca G, Giugliani R.

Clin Chim Acta. 2011 Sep 18;412(19-20):1805-8. doi: 10.1016/j.cca.2011.06.001. Epub 2011 Jun 12.

2.

Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay.

Cozma C, Eichler S, Wittmann G, Flores Bonet A, Kramp GJ, Giese AK, Rolfs A.

PLoS One. 2015 Jul 6;10(7):e0131228. doi: 10.1371/journal.pone.0131228. eCollection 2015.

3.

N-acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samples.

Parkinson-Lawrence EJ, Muller VJ, Hopwood JJ, Brooks DA.

Clin Chim Acta. 2007 Feb;377(1-2):88-91. Epub 2006 Sep 1.

PMID:
17027703
4.

Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry.

Tomatsu S, Montaño AM, Oguma T, Dung VC, Oikawa H, de Carvalho TG, Gutiérrez ML, Yamaguchi S, Suzuki Y, Fukushi M, Kida K, Kubota M, Barrera L, Orii T.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S35-42. doi: 10.1007/s10545-009-9013-x. Epub 2010 Jan 27.

PMID:
20107903
5.

Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.

Hendriksz CJ, Harmatz P, Beck M, Jones S, Wood T, Lachman R, Gravance CG, Orii T, Tomatsu S.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):54-64. doi: 10.1016/j.ymgme.2013.04.002. Epub 2013 Apr 10. Review.

6.

Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.

Tomatsu S, Okamura K, Taketani T, Orii KO, Nishioka T, Gutierrez MA, Velez-Castrillon S, Fachel AA, Grubb JH, Cooper A, Thornley M, Wraith E, Barrera LA, Giugliani R, Schwartz IV, Frenking GS, Beck M, Kircher SG, Paschke E, Yamaguchi S, Ullrich K, Isogai K, Suzuki Y, Orii T, Kondo N, Creer M, Noguchi A.

Pediatr Res. 2004 Apr;55(4):592-7. Epub 2004 Jan 7.

PMID:
14711889
7.

Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spots.

Hein LK, Meikle PJ, Dean CJ, Bockmann MR, Auclair D, Hopwood JJ, Brooks DA.

Clin Chim Acta. 2005 Mar;353(1-2):67-74.

PMID:
15698592
8.

[Mucopolysaccharidosis IVA (Morquio A syndrome): clinical, biological and therapeutic aspects].

Bouzidi H, Khedhiri S, Laradi S, Ferchichi S, Daudon M, Miled A.

Ann Biol Clin (Paris). 2007 Jan-Feb;65(1):5-11. Review. French.

9.

Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots.

Ullal AJ, Millington DS, Bali DS.

Mol Genet Metab Rep. 2014 Oct 22;1:461-464. eCollection 2014.

10.

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.

Curr Pharm Biotechnol. 2011 Jun;12(6):931-45. doi: 1389-2010/11 $58.00+.00. Review.

PMID:
21506915
11.

Enzyme replacement in a human model of mucopolysaccharidosis IVA in vitro and its biodistribution in the cartilage of wild type mice.

Dvorak-Ewell M, Wendt D, Hague C, Christianson T, Koppaka V, Crippen D, Kakkis E, Vellard M.

PLoS One. 2010 Aug 16;5(8):e12194. doi: 10.1371/journal.pone.0012194.

12.
13.

Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.

Dũng VC, Tomatsu S, Montaño AM, Gottesman G, Bober MB, Mackenzie W, Maeda M, Mitchell GA, Suzuki Y, Orii T.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):129-38. doi: 10.1016/j.ymgme.2013.06.008. Epub 2013 Jun 26.

14.

Validation of an LC-MS/MS assay for detecting relevant disaccharides from keratan sulfate as a biomarker for Morquio A syndrome.

Martell LA, Cunico RL, Ohh J, Fulkerson W, Furneaux R, Foehr ED.

Bioanalysis. 2011 Aug;3(16):1855-66. doi: 10.4155/bio.11.172.

PMID:
21877895
15.

Detection of mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood spots and plasma samples.

Dean CJ, Bockmann MR, Hopwood JJ, Brooks DA, Meikle PJ.

Clin Chem. 2006 Apr;52(4):643-9. Epub 2006 Feb 23.

16.

Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.

Laradi S, Tukel T, Khediri S, Shabbeer J, Erazo M, Chkioua L, Chaabouni M, Ferchichi S, Miled A, Desnick RJ.

Mol Genet Metab. 2006 Mar;87(3):213-8.

PMID:
16378744
17.

Enzyme replacement therapy in a murine model of Morquio A syndrome.

Tomatsu S, Montaño AM, Ohashi A, Gutierrez MA, Oikawa H, Oguma T, Dung VC, Nishioka T, Orii T, Sly WS.

Hum Mol Genet. 2008 Mar 15;17(6):815-24. Epub 2007 Dec 3.

PMID:
18056156
19.

Mucopolysaccharidoses type I and IVA: clinical features and consanguinity in Tunisia.

Khedhiri S, Chkioua L, Bouzidi H, Dandana A, Ben Turkia H, Miled A, Laradi S.

Pathol Biol (Paris). 2009 Jul;57(5):392-7. doi: 10.1016/j.patbio.2008.05.005. Epub 2008 Jun 26.

PMID:
18584975
20.

[Morquio A disease: clinical and molecular study of Tunisian patients].

Khedhiri S, Chkioua L, Ferchichi S, Miled A, Laradi S.

Ann Biol Clin (Paris). 2011 Jul-Aug;69(4):425-9. doi: 10.1684/abc.2011.0593. French.

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