Martin MM - Search Results

1

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: martin mm. 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

2

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

3

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. 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

4

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. 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

5

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. Clin Chem. 2011 Sep;57(9):1286-94. doi: 10.1373/clinchem.2011.164640. Epub 2011 Jul 19. Clin Chem. 2011. PMID: 21771947

6

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. Orsini JJ, et al. Among authors: martin mm. Clin Chim Acta. 2012 Aug 16;413(15-16):1270-3. doi: 10.1016/j.cca.2012.04.012. Epub 2012 Apr 21. Clin Chim Acta. 2012. PMID: 22548856 Free PMC article.

7

Newborn screening for Krabbe disease in New York State: the first eight years' experience.

Orsini JJ, Kay DM, Saavedra-Matiz CA, Wenger DA, Duffner PK, Erbe RW, Biski C, Martin M, Krein LM, Nichols M, Kurtzberg J, Escolar ML, Adams DJ, Arnold GL, Iglesias A, Galvin-Parton P, Kronn DF, Kwon JM, Levy PA, Pellegrino JE, Shur N, Wasserstein MP, Caggana M; New York State Krabbe Disease Consortium. Orsini JJ, et al. Genet Med. 2016 Mar;18(3):239-48. doi: 10.1038/gim.2015.211. Epub 2016 Jan 21. Genet Med. 2016. PMID: 26795590 Free article.

8

The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.

Wasserstein MP, Caggana M, Bailey SM, Desnick RJ, Edelmann L, Estrella L, Holzman I, Kelly NR, Kornreich R, Kupchik SG, Martin M, Nafday SM, Wasserman R, Yang A, Yu C, Orsini JJ. Wasserstein MP, et al. Genet Med. 2019 Mar;21(3):631-640. doi: 10.1038/s41436-018-0129-y. Epub 2018 Aug 10. Genet Med. 2019. PMID: 30093709 Free PMC article.

9

The Impact of Post-Analytical Tools on New York Screening for Krabbe Disease and Pompe Disease.

Martin MM, Wilson R, Caggana M, Orsini JJ. Martin MM, et al. Int J Neonatal Screen. 2020 Aug 14;6(3):65. doi: 10.3390/ijns6030065. Int J Neonatal Screen. 2020. PMID: 33239591 Free PMC article.

10

ScreenPlus: A comprehensive, multi-disorder newborn screening program.

Kelly NR, Orsini JJ, Goldenberg AJ, Mulrooney NS, Boychuk NA, Clarke MJ, Paleologos K, Martin MM, McNeight H, Caggana M, Bailey SM, Eiland LR, Ganesh J, Kupchik G, Lumba R, Nafday S, Stroustrup A, Gelb MH, Wasserstein MP. Kelly NR, et al. Among authors: martin mm. Mol Genet Metab Rep. 2023 Dec 14;38:101037. doi: 10.1016/j.ymgmr.2023.101037. eCollection 2024 Mar. Mol Genet Metab Rep. 2023. PMID: 38173711 Free PMC article.

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