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Items: 1 to 20 of 143

1.

Newborn bloodspot screening for lysosomal storage disorders.

Zhou H, Fernhoff P, Vogt RF.

J Pediatr. 2011 Jul;159(1):7-13.e1. doi: 10.1016/j.jpeds.2011.02.026. Epub 2011 Apr 13. No abstract available.

PMID:
21492868
2.

Rapid and effective screening for lysosomal storage disease: how close are we?

Millington DS.

Clin Chem. 2008 Oct;54(10):1592-4. doi: 10.1373/clinchem.2008.112110. No abstract available.

3.

Newborn screening for lysosomal storage disorders.

Millington DS.

Clin Chem. 2005 May;51(5):808-9. No abstract available.

4.

Newborn screening of lysosomal storage disorders.

Marsden D, Levy H.

Clin Chem. 2010 Jul;56(7):1071-9. doi: 10.1373/clinchem.2009.141622. Epub 2010 May 20. Review.

5.

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
6.

Newborn screening for lysosomal storage disorders.

Matern D, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S.

Semin Perinatol. 2015 Apr;39(3):206-16. doi: 10.1053/j.semperi.2015.03.005. Epub 2015 Apr 16. Review.

PMID:
25891428
7.

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.

8.

Newborn dried bloodspot screening: mapping the clinical and public health components and activities.

Hinman AR, Mann MY, Singh RH; NDBS Business Process Analysis Workgroup.

Genet Med. 2009 Jun;11(6):418-24. doi: 10.1097/GIM.0b013e31819f1b33. Erratum in: Genet Med. 2009 Aug;11(8):594.

PMID:
19369886
9.
10.

Committee report: Considerations and recommendations for national guidance regarding the retention and use of residual dried blood spot specimens after newborn screening.

Therrell BL Jr, Hannon WH, Bailey DB Jr, Goldman EB, Monaco J, Norgaard-Pedersen B, Terry SF, Johnson A, Howell RR.

Genet Med. 2011 Jul;13(7):621-4. doi: 10.1097/GIM.0b013e3182147639.

PMID:
21602691
11.

Application of mass spectrometry in newborn screening: about both small molecular diseases and lysosomal storage diseases.

Hwu WL, Chien YH, Lee NC, Wang SF, Chiang SC, Hsu LW.

Top Curr Chem. 2014;336:177-96. doi: 10.1007/128_2012_354. Review.

PMID:
22911488
12.

New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry.

la Marca G, Casetta B, Malvagia S, Guerrini R, Zammarchi E.

Anal Chem. 2009 Aug 1;81(15):6113-21. doi: 10.1021/ac900504s.

PMID:
19555116
13.

Newborn screening in Fabry disease: what can be achieved with early diagnosis?

Bodamer OA.

Clin Ther. 2008;30 Suppl B:S41. No abstract available.

PMID:
18395134
14.

Simplified newborn screening protocol for lysosomal storage disorders.

Metz TF, Mechtler TP, Orsini JJ, Martin M, Shushan B, Herman JL, Ratschmann R, Item CB, Streubel B, Herkner KR, Kasper DC.

Clin Chem. 2011 Sep;57(9):1286-94. doi: 10.1373/clinchem.2011.164640. Epub 2011 Jul 19.

15.

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
16.

LC-MS/MS progress in newborn screening.

Lehotay DC, Hall P, Lepage J, Eichhorst JC, Etter ML, Greenberg CR.

Clin Biochem. 2011 Jan;44(1):21-31. doi: 10.1016/j.clinbiochem.2010.08.007. Epub 2010 Aug 13. Review.

PMID:
20709048
17.

Newborn screening for lysosomal storage disorders.

Matern D.

Acta Paediatr. 2008 Apr;97(457):33-7. doi: 10.1111/j.1651-2227.2008.00652.x. Review.

PMID:
18339185
18.

[Mass spectrometry and neonatal screening].

Garnotel R.

Ann Biol Clin (Paris). 2015 Jan-Feb;73(1):107-11. doi: 10.1684/abc.2014.1021. Review. French.

PMID:
25582727
19.

Newborn screening for lysosomal storage diseases: an ethical and policy analysis.

Ross LF.

J Inherit Metab Dis. 2012 Jul;35(4):627-34. doi: 10.1007/s10545-011-9435-0. Epub 2011 Dec 22.

PMID:
22189599
20.

Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening.

Kingma SD, Bodamer OA, Wijburg FA.

Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):145-57. doi: 10.1016/j.beem.2014.08.004. Epub 2014 Aug 26. Review.

PMID:
25987169

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