Keutzer J - Search Results

1

Implementation of newborn screening for Krabbe disease: population study and cutoff determination.

Orsini JJ, Morrissey MA, Slavin LN, Wojcik M, Biski C, Martin M, Keutzer J, Zhang XK, Chuang WL, Elbin C, Caggana M. Orsini JJ, et al. Among authors: keutzer j. Clin Biochem. 2009 Jun;42(9):877-84. doi: 10.1016/j.clinbiochem.2009.01.022. Epub 2009 Feb 9. Clin Biochem. 2009. PMID: 19318021

2

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. De Jesus VR, et al. Among authors: keutzer j. Clin Chem. 2009 Jan;55(1):158-64. doi: 10.1373/clinchem.2008.111864. Epub 2008 Nov 6. Clin Chem. 2009. PMID: 18988750

3

Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease.

Chuang WL, Pacheco J, Zhang XK, Martin MM, Biski CK, Keutzer JM, Wenger DA, Caggana M, Orsini JJ Jr. Chuang WL, et al. Among authors: keutzer jm. Clin Chim Acta. 2013 Apr 18;419:73-6. doi: 10.1016/j.cca.2013.01.017. Epub 2013 Feb 16. Clin Chim Acta. 2013. PMID: 23419961

4

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. Dajnoki A, et al. Among authors: keutzer j. Clin Chim Acta. 2010 Oct 9;411(19-20):1428-31. doi: 10.1016/j.cca.2010.03.009. Epub 2010 Mar 22. Clin Chim Acta. 2010. PMID: 20338160

5

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. Zhang XK, et al. Clin Chem. 2008 Oct;54(10):1725-8. doi: 10.1373/clinchem.2008.104711. Epub 2008 Aug 21. Clin Chem. 2008. PMID: 18719200

6

Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry.

Legnini E, Orsini JJ, Hung C, Martin M, Showers A, Scarpa M, Zhang XK, Keutzer J, Mühl A, Bodamer OA. Legnini E, et al. Among authors: keutzer j. Clin Chim Acta. 2011 Jan 30;412(3-4):343-6. doi: 10.1016/j.cca.2010.11.006. Epub 2010 Nov 9. Clin Chim Acta. 2011. PMID: 21070755

7

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. Dajnoki A, et al. Among authors: keutzer j. Clin Chem. 2008 Oct;54(10):1624-9. doi: 10.1373/clinchem.2008.107722. Epub 2008 Aug 14. Clin Chem. 2008. PMID: 18703766

8

The effect of preparation, storage and shipping of dried blood spots on the activity of five lysosomal enzymes.

Elbin CS, Olivova P, Marashio CA, Cooper SK, Cullen E, Keutzer JM, Zhang XK. Elbin CS, et al. Clin Chim Acta. 2011 Jun 11;412(13-14):1207-12. doi: 10.1016/j.cca.2011.03.012. Epub 2011 Mar 17. Clin Chim Acta. 2011. PMID: 21419758

9

Multiplex lysosomal enzyme activity assay on dried blood spots using tandem mass spectrometry.

Zhang XK, Elbin CS, Turecek F, Scott R, Chuang WL, Keutzer JM, Gelb M. Zhang XK, et al. Methods Mol Biol. 2010;603:339-50. doi: 10.1007/978-1-60761-459-3_32. Methods Mol Biol. 2010. PMID: 20077085 Free PMC article.

10

Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients.

Chuang WL, Pacheco J, Cooper S, McGovern MM, Cox GF, Keutzer J, Zhang XK. Chuang WL, et al. Among authors: keutzer j. Mol Genet Metab. 2014 Feb;111(2):209-11. doi: 10.1016/j.ymgme.2013.11.012. Epub 2013 Dec 7. Mol Genet Metab. 2014. PMID: 24418695

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