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Achieving Congruence among Reference Laboratories for Absolute Abundance Measurement of Analytes for Rare Diseases: Psychosine for Diagnosis and Prognosis of Krabbe Disease.
Int J Neonatal Screen. 2020 Jun;6(2):29. doi: 10.3390/ijns6020029. Epub 2020 Mar 31.
Int J Neonatal Screen. 2020.
PMID: 32373753
Free PMC article.
Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease.
Langan TJ, Orsini JJ, Jalal K, Barczykowski AL, Escolar ML, Poe MD, Biski CK, Carter RL.
Langan TJ, et al. Among authors: biski ck.
Genet Med. 2019 Jul;21(7):1644-1651. doi: 10.1038/s41436-018-0371-3. Epub 2018 Dec 14.
Genet Med. 2019.
PMID: 30546085
Free article.
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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. Among authors: biski c.
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
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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: biski c.
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.
Item in Clipboard
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: biski ck.
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
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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: biski ck.
Clin Chem. 2013 Jul;59(7):1045-51. doi: 10.1373/clinchem.2012.198945. Epub 2013 Mar 18.
Clin Chem. 2013.
PMID: 23509109
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