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Results: 1 to 20 of 447

1.

Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders.

De Jesus VR, Zhang XK, Keutzer J, Bodamer OA, Mühl A, Orsini JJ, Caggana M, Vogt RF, Hannon WH.

Clin Chem. 2009 Jan;55(1):158-64. doi: 10.1373/clinchem.2008.111864. Epub 2008 Nov 6.

PMID:
18988750
[PubMed - indexed for MEDLINE]
Free Article
2.

Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry.

Dajnoki A, Mühl A, Fekete G, Keutzer J, Orsini J, Dejesus V, Zhang XK, Bodamer OA.

Clin Chem. 2008 Oct;54(10):1624-9. doi: 10.1373/clinchem.2008.107722. Epub 2008 Aug 14.

PMID:
18703766
[PubMed - indexed for MEDLINE]
Free Article
3.

Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: application to a small-scale population study for five lysosomal storage disorders.

Orsini JJ, Martin MM, Showers AL, Bodamer OA, Zhang XK, Gelb MH, Caggana M.

Clin Chim Acta. 2012 Aug 16;413(15-16):1270-3. doi: 10.1016/j.cca.2012.04.012. Epub 2012 Apr 21.

PMID:
22548856
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.

Sista RS, Wang T, Wu N, Graham C, Eckhardt A, Winger T, Srinivasan V, Bali D, Millington DS, Pamula VK.

Clin Chim Acta. 2013 Sep 23;424:12-8. doi: 10.1016/j.cca.2013.05.001. Epub 2013 May 7.

PMID:
23660237
[PubMed - indexed for MEDLINE]
5.

The preparation and storage of dried-blood spot quality control materials for lysosomal storage disease screening tests.

Adam BW, Orsini JJ Jr, Martin M, Hall EM, Zobel SD, Caggana M, Hannon WH.

Clin Biochem. 2011 Jun;44(8-9):704-10. doi: 10.1016/j.clinbiochem.2011.02.014. Epub 2011 Mar 4.

PMID:
21382365
[PubMed - indexed for MEDLINE]
6.

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.

Mechtler TP, Stary S, Metz TF, De Jesús VR, Greber-Platzer S, Pollak A, Herkner KR, Streubel B, Kasper DC.

Lancet. 2012 Jan 28;379(9813):335-41. doi: 10.1016/S0140-6736(11)61266-X. Epub 2011 Nov 29.

PMID:
22133539
[PubMed - indexed for MEDLINE]
7.

Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders.

Umapathysivam K, Whittle AM, Ranieri E, Bindloss C, Ravenscroft EM, van Diggelen OP, Hopwood JJ, Meikle PJ.

Clin Chem. 2000 Sep;46(9):1318-25.

PMID:
10973860
[PubMed - indexed for MEDLINE]
Free Article
8.

Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry.

Dajnoki A, Fekete G, Keutzer J, Orsini JJ, De Jesus VR, Chien YH, Hwu WL, Lukacs Z, Mühl A, Zhang XK, Bodamer O.

Clin Chim Acta. 2010 Oct 9;411(19-20):1428-31. doi: 10.1016/j.cca.2010.03.009. Epub 2010 Mar 22.

PMID:
20338160
[PubMed - indexed for MEDLINE]
9.

Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.

Li Y, Scott CR, Chamoles NA, Ghavami A, Pinto BM, Turecek F, Gelb MH.

Clin Chem. 2004 Oct;50(10):1785-96. Epub 2004 Aug 3.

PMID:
15292070
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders.

Gelb MH, Turecek F, Scott CR, Chamoles NA.

J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):397-404.

PMID:
16763908
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening.

deWilde A, Sadilkova K, Sadilek M, Vasta V, Hahn SH.

Clin Chem. 2008 Dec;54(12):1961-8. doi: 10.1373/clinchem.2008.111989. Epub 2008 Oct 9.

PMID:
18845768
[PubMed - indexed for MEDLINE]
Free Article
12.

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
[PubMed - indexed for MEDLINE]
13.

Analysis of acid sphingomyelinase activity in dried blood spots using tandem mass spectrometry.

Legnini E, Orsini JJ, Mühl A, Johnson B, Dajnoki A, Bodamer OA.

Ann Lab Med. 2012 Sep;32(5):319-23. doi: 10.3343/alm.2012.32.5.319. Epub 2012 Aug 13.

PMID:
22950066
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Reference intervals of α-glycosidase, β-glycosidase, and α-galactosidase in dried blood spot in a Turkish newborn population.

Aldemir O, Ergun P, Güneş S, Köroğlu OA, Yalaz M, Kültürsay N, Coker M, Sözmen EY.

Eur J Pediatr. 2013 Sep;172(9):1221-7. doi: 10.1007/s00431-013-2026-3. Epub 2013 May 10.

PMID:
23661235
[PubMed - indexed for MEDLINE]
15.

High-throughput assay of 9 lysosomal enzymes for newborn screening.

Spacil Z, Tatipaka H, Barcenas M, Scott CR, Turecek F, Gelb MH.

Clin Chem. 2013 Mar;59(3):502-11. doi: 10.1373/clinchem.2012.189936. Epub 2013 Jan 11.

PMID:
23315484
[PubMed - indexed for MEDLINE]
Free Article
16.

Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry.

Zhang XK, Elbin CS, Chuang WL, Cooper SK, Marashio CA, Beauregard C, Keutzer JM.

Clin Chem. 2008 Oct;54(10):1725-8. doi: 10.1373/clinchem.2008.104711. Epub 2008 Aug 21.

PMID:
18719200
[PubMed - indexed for MEDLINE]
Free Article
17.

Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.

Magera MJ, Gunawardena ND, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, Rinaldo P, Matern D.

Mol Genet Metab. 2006 May;88(1):16-21. Epub 2006 Jan 31.

PMID:
16448836
[PubMed - indexed for MEDLINE]
18.

Gaucher and Niemann-Pick diseases--enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards.

Chamoles NA, Blanco M, Gaggioli D, Casentini C.

Clin Chim Acta. 2002 Mar;317(1-2):191-7.

PMID:
11814475
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

The application of multiplexed, multi-dimensional ultra-high-performance liquid chromatography/tandem mass spectrometry to the high-throughput screening of lysosomal storage disorders in newborn dried bloodspots.

Kasper DC, Herman J, De Jesus VR, Mechtler TP, Metz TF, Shushan B.

Rapid Commun Mass Spectrom. 2010 Apr 15;24(7):986-94. doi: 10.1002/rcm.4496.

PMID:
20209662
[PubMed - indexed for MEDLINE]

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