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Items: 1 to 20 of 149

1.

Diagnosis of the mucopolysaccharidoses.

Lehman TJ, Miller N, Norquist B, Underhill L, Keutzer J.

Rheumatology (Oxford). 2011 Dec;50 Suppl 5:v41-8. doi: 10.1093/rheumatology/ker390. Review.

PMID:
22210670
2.

Diagnosis of mucopolysaccharidoses: how to avoid false positives and false negatives.

Mahalingam K, Janani S, Priya S, Elango EM, Sundari RM.

Indian J Pediatr. 2004 Jan;71(1):29-32.

PMID:
14979382
3.
4.

Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and Berry spot tests.

Mabe P, Valiente A, Soto V, Cornejo V, Raimann E.

Clin Chim Acta. 2004 Jul;345(1-2):135-40.

PMID:
15193988
5.

Screening test for urinary glycosaminoglycans and differentiation of various mucopolysaccharidoses.

Huang KC, Sukegawa K, Orii T.

Clin Chim Acta. 1985 Sep 30;151(2):147-56.

PMID:
3930103
6.
7.
8.

Glycosaminoglycan accumulation and excretion in the mucopolysaccharidoses: characterization and basis of a diagnostic test for MPS.

Byers S, Rozaklis T, Brumfield LK, Ranieri E, Hopwood JJ.

Mol Genet Metab. 1998 Dec;65(4):282-90.

PMID:
9889015
9.

[Laboratory diagnosis and follow up of mucopolysaccharidoses].

Froissart R, Bekri S.

Arch Pediatr. 2014 Jun;21 Suppl 1:S27-31. doi: 10.1016/S0929-693X(14)72256-0. French.

PMID:
25063381
10.

Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses.

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

J Inherit Metab Dis. 2005;28(2):187-202.

PMID:
15877208
11.

Musculoskeletal manifestations of mucopolysaccharidoses.

Morishita K, Petty RE.

Rheumatology (Oxford). 2011 Dec;50 Suppl 5:v19-25. doi: 10.1093/rheumatology/ker397. Review.

PMID:
22210666
12.
13.

Overview of the mucopolysaccharidoses.

Muenzer J.

Rheumatology (Oxford). 2011 Dec;50 Suppl 5:v4-12. doi: 10.1093/rheumatology/ker394. Review.

PMID:
22210669
14.

Mucopolysaccharidoses.

Cimaz R, La Torre F.

Curr Rheumatol Rep. 2014 Jan;16(1):389. doi: 10.1007/s11926-013-0389-0. Review.

PMID:
24264718
15.

[Characteristics of intracellular and excretory glycosaminoglycans in hereditary mucopolysaccharidoses].

Odinokova ON, Bialik MA, Krasnopol'skaia KD, Iakovlev SA.

Vopr Med Khim. 1986 Jan-Feb;32(1):87-92. Russian.

PMID:
3082072
16.

Reliability of a visual test for the rapid detection of mucopolysaccharidoses: GAG-test(®).

Lage S, Prieto JA, Andrade F, Sojo A, Sanjurjo P, Aldámiz-Echevarría LJ.

J Clin Lab Anal. 2011;25(3):179-84. doi: 10.1002/jcla.20453.

PMID:
21567465
17.

Respiratory manifestations in mucopolysaccharidoses.

Muhlebach MS, Wooten W, Muenzer J.

Paediatr Respir Rev. 2011 Jun;12(2):133-8. doi: 10.1016/j.prrv.2010.10.005.

PMID:
21458742
18.

Clinical and laboratorial study of 19 cases of mucopolysaccharidoses.

Albano LM, Sugayama SS, Bertola DR, Andrade CE, Utagawa CY, Puppi F, Nader HB, Toma L, Coelho J, Leistner S, Burin M, Giugliani R, Chong AK.

Rev Hosp Clin Fac Med Sao Paulo. 2000 Nov-Dec;55(6):213-8.

19.

Ocular manifestations as key features for diagnosing mucopolysaccharidoses.

Summers CG, Ashworth JL.

Rheumatology (Oxford). 2011 Dec;50 Suppl 5:v34-40. doi: 10.1093/rheumatology/ker392. Review.

PMID:
22210668
20.

Correlation between severity of mucopolysaccharidoses and combination of the residual enzyme activity and efficiency of glycosaminoglycan synthesis.

Piotrowska E, Jakóbkiewicz-Banecka J, Tylki-Szymańska A, Czartoryska B, Wegrzyn A, Wegrzyn G.

Acta Paediatr. 2009 Apr;98(4):743-9. doi: 10.1111/j.1651-2227.2008.01153.x.

PMID:
19046346

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