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Year Number of Results
2005 1
2009 2
2010 1
2013 1
2014 1
2015 1
2016 2
2020 1
2021 1
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9 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: pellegrino je. Genet Med. 2016 Mar;18(3):239-48. doi: 10.1038/gim.2015.211. Epub 2016 Jan 21. Genet Med. 2016. PMID: 26795590
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Guenzel AJ, Turgeon CT, Nickander KK, White AL, Peck DS, Pino GB, Studinski AL, Prasad VK, Kurtzberg J, Escolar ML, Lasio MLD, Pellegrino JE, Sakonju A, Hickey RE, Shallow NM, Ream MA, Orsini JJ, Gelb MH, Raymond K, Gavrilov DK, Oglesbee D, Rinaldo P, Tortorelli S, Matern D. Guenzel AJ, et al. Among authors: pellegrino je. Genet Med. 2020 Jun;22(6):1108-1118. doi: 10.1038/s41436-020-0764-y. Epub 2020 Feb 24. Genet Med. 2020. PMID: 32089546
Myoclonus-dystonia syndrome associated with Russell Silver syndrome.
Augustine EF, Blackburn J, Pellegrino JE, Miller R, Mink JW. Augustine EF, et al. Among authors: pellegrino je. Mov Disord. 2013 Jun;28(6):841-2. doi: 10.1002/mds.25483. Epub 2013 May 23. Mov Disord. 2013. PMID: 23703955 Free PMC article. No abstract available.
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State.
Wasserstein MP, Andriola M, Arnold G, Aron A, Duffner P, Erbe RW, Escolar ML, Estrella L, Galvin-Parton P, Iglesias A, Kay DM, Kronn DF, Kurtzberg J, Kwon JM, Langan TJ, Levy PA, Naidich TP, Orsini JJ, Pellegrino JE, Provenzale JM, Wenger DA, Caggana M. Wasserstein MP, et al. Among authors: pellegrino je. Genet Med. 2016 Dec;18(12):1235-1243. doi: 10.1038/gim.2016.35. Epub 2016 May 12. Genet Med. 2016. PMID: 27171547
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: pellegrino je. Pediatr Neurol. 2009 Apr;40(4):245-52; discussion 253-5. doi: 10.1016/j.pediatrneurol.2008.11.010. Pediatr Neurol. 2009. PMID: 19302934
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.
Arnold GL, Saavedra-Matiz CA, Galvin-Parton PA, Erbe R, Devincentis E, Kronn D, Mofidi S, Wasserstein M, Pellegrino JE, Levy PA, Adams DJ, Nichols M, Caggana M. Arnold GL, et al. Among authors: pellegrino je. Mol Genet Metab. 2010 Mar;99(3):263-8. doi: 10.1016/j.ymgme.2009.10.188. Epub 2009 Nov 1. Mol Genet Metab. 2010. PMID: 20036593