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Page 1
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
Lin N, Huang J, Violante S, Orsini JJ, Caggana M, Hughes EE, Stevens C, DiAntonio L, Chieh Liao H, Hong X, Ghomashchi F, Babu Kumar A, Zhou H, Kornreich R, Wasserstein M, Gelb MH, Yu C. Lin N, et al. Among authors: diantonio l. Clin Chem. 2017 Apr;63(4):842-851. doi: 10.1373/clinchem.2016.259036. Epub 2017 Feb 14. Clin Chem. 2017. PMID: 28196920 Free PMC article.
Cost-effective and scalable DNA extraction method from dried blood spots.
Saavedra-Matiz CA, Isabelle JT, Biski CK, Duva SJ, Sweeney ML, Parker AL, Young AJ, Diantonio LL, Krein LM, Nichols MJ, Caggana M. Saavedra-Matiz CA, et al. Among authors: diantonio ll. Clin Chem. 2013 Jul;59(7):1045-51. doi: 10.1373/clinchem.2012.198945. Epub 2013 Mar 18. Clin Chem. 2013. PMID: 23509109
Newborn screening for SCID in New York State: experience from the first two years.
Vogel BH, Bonagura V, Weinberg GA, Ballow M, Isabelle J, DiAntonio L, Parker A, Young A, Cunningham-Rundles C, Fong CT, Celestin J, Lehman H, Rubinstein A, Siegel S, Weiner L, Saavedra-Matiz C, Kay DM, Caggana M. Vogel BH, et al. Among authors: diantonio l. J Clin Immunol. 2014 Apr;34(3):289-303. doi: 10.1007/s10875-014-0006-7. Epub 2014 Mar 1. J Clin Immunol. 2014. PMID: 24578017 Free PMC article.
Development of genomic reference materials for cystic fibrosis genetic testing.
Pratt VM, Caggana M, Bridges C, Buller AM, DiAntonio L, Highsmith WE, Holtegaard LM, Muralidharan K, Rohlfs EM, Tarleton J, Toji L, Barker SD, Kalman LV. Pratt VM, et al. Among authors: diantonio l. J Mol Diagn. 2009 May;11(3):186-93. doi: 10.2353/jmoldx.2009.080149. Epub 2009 Apr 9. J Mol Diagn. 2009. PMID: 19359498 Free PMC article.
Analysis of age-related changes in psychosine metabolism in the human brain.
Marshall MS, Jakubauskas B, Bogue W, Stoskute M, Hauck Z, Rue E, Nichols M, DiAntonio LL, van Breemen RB, Kordower JH, Saavedra-Matiz CA, Bongarzone ER. Marshall MS, et al. Among authors: diantonio ll. PLoS One. 2018 Feb 26;13(2):e0193438. doi: 10.1371/journal.pone.0193438. eCollection 2018. PLoS One. 2018. PMID: 29481565 Free PMC article.
Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico.
Mahadeo KM, Diop-Bove N, Ramirez SI, Cadilla CL, Rivera E, Martin M, Lerner NB, DiAntonio L, Duva S, Santiago-Borrero PJ, Goldman ID. Mahadeo KM, et al. Among authors: diantonio l. J Pediatr. 2011 Oct;159(4):623-7.e1. doi: 10.1016/j.jpeds.2011.03.005. Epub 2011 Apr 13. J Pediatr. 2011. PMID: 21489556 Free PMC article.