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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
2022 1
2024 0

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17 results

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Page 1
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.
Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years.
Lee BH, Deng S, Chiriboga CA, Kay DM, Irumudomon O, Laureta E, Delfiner L, Treidler SO, Anziska Y, Sakonju A, Kois C, Farooq O, Engelstad K, Laurenzano A, Hogan K, Caggana M, Saavedra-Matiz CA, Stevens CF, Ciafaloni E. Lee BH, et al. Among authors: saavedra matiz ca. Neurology. 2022 Oct 3;99(14):e1527-e1537. doi: 10.1212/WNL.0000000000200986. Neurology. 2022. PMID: 35835557 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: 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.
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 Free 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.
Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening.
Kay DM, Langfelder-Schwind E, DeCelie-Germana J, Sharp JK, Maloney B, Tavakoli NP, Saavedra-Matiz CA, Krein LM, Caggana M, Kier C; New York State Cystic Fibrosis Newborn Screening Consortium. Kay DM, et al. Among authors: saavedra matiz ca. Pediatr Pulmonol. 2015 Aug;50(8):771-80. doi: 10.1002/ppul.23222. Epub 2015 Jun 22. Pediatr Pulmonol. 2015. PMID: 26098992
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 Free article.
17 results