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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.
Herbst Z, Turgeon CT, Biski C, Khaledi H, Shoemaker NB, DeArmond PD, Smith S, Orsini J, Matern D, Gelb MH. Herbst Z, et al. Among authors: orsini j. 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.
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. 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.
Newborn screening for Krabbe's disease.
Orsini JJ, Saavedra-Matiz CA, Gelb MH, Caggana M. Orsini JJ, et al. J Neurosci Res. 2016 Nov;94(11):1063-75. doi: 10.1002/jnr.23781. J Neurosci Res. 2016. PMID: 27638592 Free PMC article. Review.
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: orsini jj. 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.
Psychosine, a marker of Krabbe phenotype and treatment effect.
Escolar ML, Kiely BT, Shawgo E, Hong X, Gelb MH, Orsini JJ, Matern D, Poe MD. Escolar ML, et al. Among authors: orsini jj. Mol Genet Metab. 2017 Jul;121(3):271-278. doi: 10.1016/j.ymgme.2017.05.015. Epub 2017 May 22. Mol Genet Metab. 2017. PMID: 28579020 Free PMC article.
214 results