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Items: 1 to 20 of 32

1.

Rapid diagnostic testing procedures for lysosomal storage disorders: alpha-glucosidase and beta-galactosidase assays on dried blood spots.

Gasparotto N, Tomanin R, Frigo AC, Niizawa G, Pasquini E, Blanco M, Donati MA, Keutzer J, Zacchello F, Scarpa M.

Clin Chim Acta. 2009 Apr;402(1-2):38-41. doi: 10.1016/j.cca.2008.12.006. Epub 2008 Dec 13.

PMID:
19111682
2.

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

Reuser AJ, Verheijen FW, Bali D, van Diggelen OP, Germain DP, Hwu WL, Lukacs Z, Mühl A, Olivova P, Piraud M, Wuyts B, Zhang K, Keutzer J.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):144-8. doi: 10.1016/j.ymgme.2011.07.014. Epub 2011 Jul 23. Review.

PMID:
21831684
3.

Immunochemistry of lysosomal storage disorders.

Parkinson-Lawrence E, Fuller M, Hopwood JJ, Meikle PJ, Brooks DA.

Clin Chem. 2006 Sep;52(9):1660-8. Epub 2006 Jul 13. Review.

4.

[Screening methods for the diagnosis of lysosomal storage disease].

Mutoh T, Kuriyama M.

Nihon Rinsho. 1995 Dec;53(12):2933-7. Review. Japanese.

PMID:
8577038
5.

Lysosomal storage disorders: molecular basis and laboratory testing.

Filocamo M, Morrone A.

Hum Genomics. 2011 Mar;5(3):156-69. Review.

6.

[Gene diagnosis of lysosomal diseases].

Suzuki Y.

Nihon Rinsho. 1995 Dec;53(12):2921-5. Review. Japanese.

PMID:
8577036
7.

Current strategies in the management of lysosomal storage diseases.

Heese BA.

Semin Pediatr Neurol. 2008 Sep;15(3):119-26. doi: 10.1016/j.spen.2008.05.005. Review.

PMID:
18708002
8.

Lysosomal storage diseases as differential diagnoses to rheumatic disorders.

Michels H, Mengel E.

Curr Opin Rheumatol. 2008 Jan;20(1):76-81. doi: 10.1097/BOR.0b013e3282f169fe. Review.

PMID:
18281861
9.

Diagnosis of lysosomal storage disorders: current techniques and future directions.

Meikle PJ, Fietz MJ, Hopwood JJ.

Expert Rev Mol Diagn. 2004 Sep;4(5):677-91. Review.

PMID:
15347261
10.

Lysosomal disorders.

Wraith JE.

Semin Neonatol. 2002 Feb;7(1):75-83. Review.

PMID:
12069540
11.

Insights into the diagnosis and treatment of lysosomal storage diseases.

Wenger DA, Coppola S, Liu SL.

Arch Neurol. 2003 Mar;60(3):322-8. Review.

PMID:
12633142
12.

Lysosomal diseases: diagnostic update.

Winchester B.

J Inherit Metab Dis. 2014 Jul;37(4):599-608. doi: 10.1007/s10545-014-9710-y. Epub 2014 Apr 8. Review.

PMID:
24711203
13.

Musculoskeletal manifestations of lysosomal storage disorders.

Aldenhoven M, Sakkers RJ, Boelens J, de Koning TJ, Wulffraat NM.

Ann Rheum Dis. 2009 Nov;68(11):1659-65. doi: 10.1136/ard.2008.095315. Review.

PMID:
19822711
14.
15.

Neuroradiology of lysosomal disorders.

Blaser SI, Clarke JT, Becker LE.

Neuroimaging Clin N Am. 1994 May;4(2):283-98. Review.

PMID:
8081629
16.

Dried fluid spots for HIV type-1 viral load and resistance genotyping: a systematic review.

Hamers RL, Smit PW, Stevens W, Schuurman R, Rinke de Wit TF.

Antivir Ther. 2009;14(5):619-29. Review.

PMID:
19704164
17.

Immune system irregularities in lysosomal storage disorders.

Castaneda JA, Lim MJ, Cooper JD, Pearce DA.

Acta Neuropathol. 2008 Feb;115(2):159-74. Epub 2007 Oct 9. Review.

PMID:
17924126
18.

Dried blood spot methods in therapeutic drug monitoring: methods, assays, and pitfalls.

Edelbroek PM, van der Heijden J, Stolk LM.

Ther Drug Monit. 2009 Jun;31(3):327-36. doi: 10.1097/FTD.0b013e31819e91ce. Review.

PMID:
19349929
19.

Systematic approach to the diagnosis of lysosomal storage disorders.

Weibel TD, Brady RO.

Ment Retard Dev Disabil Res Rev. 2001;7(3):190-9. Review.

PMID:
11553935
20.

Prevention of lysosomal storage disorders in Israel.

Bach G, Zeigler M, Zlotogora J.

Mol Genet Metab. 2007 Apr;90(4):353-7. Epub 2006 Dec 18. Review.

PMID:
17178249

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