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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: gelb mh. Genet Med. 2020 Jun;22(6):1108-1118. doi: 10.1038/s41436-020-0764-y. Epub 2020 Feb 24. Genet Med. 2020. PMID: 32089546 Free article.
Newborn screening for lysosomal storage diseases.
Gelb MH, Scott CR, Turecek F. Gelb MH, et al. Clin Chem. 2015 Feb;61(2):335-46. doi: 10.1373/clinchem.2014.225771. Epub 2014 Dec 4. Clin Chem. 2015. PMID: 25477536 Free PMC article. Review.
Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II, IVA, and VI.
Kumar AB, Masi S, Ghomashchi F, Chennamaneni NK, Ito M, Scott CR, Turecek F, Gelb MH, Spacil Z. Kumar AB, et al. Among authors: gelb mh. Clin Chem. 2015 Nov;61(11):1363-71. doi: 10.1373/clinchem.2015.242560. Epub 2015 Sep 14. Clin Chem. 2015. PMID: 26369786 Free PMC article.
Newborn screening for Krabbe's disease.
Orsini JJ, Saavedra-Matiz CA, Gelb MH, Caggana M. Orsini JJ, et al. Among authors: gelb mh. 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: gelb mh. 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: gelb mh. 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.
475 results