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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2008 1
2009 1
2010 1
2013 1
2014 1
2015 3
2016 5
2018 1
2019 2
2020 2
2021 2
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16 results
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Page 1
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. Among authors: saavedra matiz ca. Genet Med. 2016 Mar;18(3):239-48. doi: 10.1038/gim.2015.211. Epub 2016 Jan 21. Genet Med. 2016. PMID: 26795590
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.
Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, Baker M, Ballow M, Bartoshesky LE, Bonilla FA, Brokopp C, Brooks E, Caggana M, Celestin J, Church JA, Comeau AM, Connelly JA, Cowan MJ, Cunningham-Rundles C, Dasu T, Dave N, De La Morena MT, Duffner U, Fong CT, Forbes L, Freedenberg D, Gelfand EW, Hale JE, Hanson IC, Hay BN, Hu D, Infante A, Johnson D, Kapoor N, Kay DM, Kohn DB, Lee R, Lehman H, Lin Z, Lorey F, Abdel-Mageed A, Manning A, McGhee S, Moore TB, Naides SJ, Notarangelo LD, Orange JS, Pai SY, Porteus M, Rodriguez R, Romberg N, Routes J, Ruehle M, Rubenstein A, Saavedra-Matiz CA, Scott G, Scott PM, Secord E, Seroogy C, Shearer WT, Siegel S, Silvers SK, Stiehm ER, Sugerman RW, Sullivan JL, Tanksley S, Tierce ML 4th, Verbsky J, Vogel B, Walker R, Walkovich K, Walter JE, Wasserman RL, Watson MS, Weinberg GA, Weiner LB, Wood H, Yates AB, Puck JM, Bonagura VR. Kwan A, et al. Among authors: saavedra matiz ca. JAMA. 2014 Aug 20;312(7):729-38. doi: 10.1001/jama.2014.9132. JAMA. 2014. PMID: 25138334 Free PMC article.
Newborn screening for Krabbe's disease.
Orsini JJ, Saavedra-Matiz CA, Gelb MH, Caggana M. Orsini JJ, et al. Among authors: saavedra matiz ca. J Neurosci Res. 2016 Nov;94(11):1063-75. doi: 10.1002/jnr.23781. J Neurosci Res. 2016. PMID: 27638592 Free PMC article. Review.
A single nucleotide polymorphism in the T-cell receptor excision circle.
Gans MD, Saavedra-Matiz CA, Bernstein L. Gans MD, et al. Among authors: saavedra matiz ca. J Allergy Clin Immunol Pract. 2020 Feb;8(2):803-805.e1. doi: 10.1016/j.jaip.2019.08.014. Epub 2019 Aug 17. J Allergy Clin Immunol Pract. 2020. PMID: 31430593 No abstract available.
Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy.
Kay DM, Stevens CF, Parker A, Saavedra-Matiz CA, Sack V, Chung WK, Chiriboga CA, Engelstad K, Laureta E, Farooq O, Ciafaloni E, Lee BH, Malek S, Treidler S, Anziska Y, Delfiner L, Sakonju A, Caggana M. Kay DM, et al. Among authors: saavedra matiz ca. Genet Med. 2020 Aug;22(8):1296-1302. doi: 10.1038/s41436-020-0824-3. Epub 2020 May 18. Genet Med. 2020. PMID: 32418989
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: saavedra matiz ca. PLoS One. 2018 Feb 26;13(2):e0193438. doi: 10.1371/journal.pone.0193438. eCollection 2018. PLoS One. 2018. PMID: 29481565 Free PMC article.
Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report.
Corre CS, Matern D, Pellegrino JE, Saavedra-Matiz CA, Orsini JJ, Thompson-Stone R. Corre CS, et al. Among authors: saavedra matiz ca. Int J Neonatal Screen. 2021 May 28;7(2):28. doi: 10.3390/ijns7020028. Int J Neonatal Screen. 2021. PMID: 34071213 Free PMC article.
16 results