Orsini JJ - 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. 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

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. Clin Chem. 2008 Oct;54(10):1624-9. doi: 10.1373/clinchem.2008.107722. Epub 2008 Aug 14. Clin Chem. 2008. PMID: 18703766

3

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: orsini jj. Clin Chem. 2009 Jan;55(1):158-64. doi: 10.1373/clinchem.2008.111864. Epub 2008 Nov 6. Clin Chem. 2009. PMID: 18988750

4

Newborn screening for Krabbe disease: the New York State model.

Duffner PK, Caggana M, Orsini JJ, Wenger DA, Patterson MC, Crosley CJ, Kurtzberg J, Arnold GL, Escolar ML, Adams DJ, Andriola MR, Aron AM, Ciafaloni E, Djukic A, Erbe RW, Galvin-Parton P, Helton LE, Kolodny EH, Kosofsky BE, Kronn DF, Kwon JM, Levy PA, Miller-Horn J, Naidich TP, Pellegrino JE, Provenzale JM, Rothman SJ, Wasserstein MP. Duffner PK, et al. Among authors: orsini jj. Pediatr Neurol. 2009 Apr;40(4):245-52; discussion 253-5. doi: 10.1016/j.pediatrneurol.2008.11.010. Pediatr Neurol. 2009. PMID: 19302934

5

Semi-quantitative method for determination of hematocrit in dried blood spots, using data collected in HPLC hemoglobin variant testing.

Orsini JJ, Yeman J, Caggana M, Bodamer OA, Mühl A. Orsini JJ, et al. Clin Chim Acta. 2010 Jun 3;411(11-12):894-5. doi: 10.1016/j.cca.2010.03.010. Epub 2010 Mar 15. Clin Chim Acta. 2010. PMID: 20230811 No abstract available.

6

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: orsini jj. 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

7

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: orsini jj. 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

8

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. Adam BW, et al. Among authors: orsini jj jr. Clin Biochem. 2011 Jun;44(8-9):704-10. doi: 10.1016/j.clinbiochem.2011.02.014. Epub 2011 Mar 4. Clin Biochem. 2011. PMID: 21382365

9

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. Metz TF, et al. Among authors: orsini jj. Clin Chem. 2011 Sep;57(9):1286-94. doi: 10.1373/clinchem.2011.164640. Epub 2011 Jul 19. Clin Chem. 2011. PMID: 21771947

10

Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards.

Puckett RL, Orsini JJ, Pastores GM, Wang RY, Chang R, Saavedra-Matiz CA, Torres PA, Zeng B, Caggana M, Lorey F, Abdenur JE. Puckett RL, et al. Among authors: orsini jj. Mol Genet Metab. 2012 Jan;105(1):126-31. doi: 10.1016/j.ymgme.2011.10.010. Epub 2011 Oct 25. Mol Genet Metab. 2012. PMID: 22115770

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