{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:03:54Z","timestamp":1761102234226,"version":"3.37.3"},"reference-count":31,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2016,9,17]],"date-time":"2016-09-17T00:00:00Z","timestamp":1474070400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100003874","name":"Hunter's Hope Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100003874","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Empire State Development Corporation for the Research Foundation-Krabbe's Disease Research Working Capital","award":["W753"],"award-info":[{"award-number":["W753"]}]},{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"crossref","award":["R-21 HD087818-01"],"award-info":[{"award-number":["R-21 HD087818-01"]}],"id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Neuroscience Research"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:p>Krabbe's disease (KD) is a fatal neurodegenerative disorder, with the early\u2010infantile form (EIKD) defined by onset of symptoms before age 6 months. Early and highly accurate identification of EIKD is required to maximize benefits of hematopoietic stem cell transplantation treatment. This study investigates the potential for accurate prediction of EIKD based on a novel newborn screening (NBS) tool developed from two biomarkers, galactocerebrosidase (GALC) enzyme activity and galactosylsphingosine concentration (psychosine [PSY]). Normative information about PSY and GALC, derived from distinct samples of normal newborns, was used to develop the novel diagnostic tool. Bivariate normal limits (BVNL) were constructed, assuming a multivariate normal distribution of natural logarithms of GALC and PSY of normal newborns. The (lnGALC, lnPSY) points for newborns in various \u201cabnormal groups,\u201d including one group of infants who subsequently suffered EIKD, were plotted on a graph of BVNL. The points for all EIKD patients fell outside of BVNL (100% sensitivity). In a simulation study to compare the false\u2010positive rate of existing univariate methods of diagnosis with our new BVNL\u2010based method, we generated 100 million normal newborn data points. All fell within BVNL (i.e., zero false positives), whereas 5,682 false positives were observed when applying a two\u2010tiered univariate method of the type suggested in the literature. These results suggest that (lnGALC, lnPSY) BVNLs will allow highly accurate prediction of EIKD, whereas two\u2010tiered univariate approaches will not. Redevelopment of the BVNL based on GALCs and PSYs measured on a common large sample of normal newborns is required for NBS use. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/jnr.23793","type":"journal-article","created":{"date-parts":[[2016,9,17]],"date-time":"2016-09-17T11:22:31Z","timestamp":1474111351000},"page":"1084-1093","source":"Crossref","is-referenced-by-count":11,"title":["Can psychosine and galactocerebrosidase activity predict early\u2010infantile <scp>K<\/scp>rabbe's disease presymptomatically?"],"prefix":"10.1002","volume":"94","author":[{"given":"Randy L.","family":"Carter","sequence":"first","affiliation":[{"name":"Department of Biostatistics, Population Health Observatory, School of Public Health and Health Professions University at Buffalo Buffalo New York"},{"name":"Hunter James Kelly Research Institute, School of Medicine and Biomedical Sciences University at Buffalo Buffalo New 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State Department of Health Albany New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy L.","family":"Barczykowski","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, Population Health Observatory, School of Public Health and Health Professions University at Buffalo Buffalo New York"},{"name":"Hunter James Kelly Research Institute, School of Medicine and Biomedical Sciences University at Buffalo Buffalo New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dietrich","family":"Matern","sequence":"additional","affiliation":[{"name":"Biochemical Genetics Laboratory, Mayo Clinic College of Medicine Rochester Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas J.","family":"Langan","sequence":"additional","affiliation":[{"name":"Hunter James Kelly Research Institute, School of Medicine and Biomedical Sciences University at Buffalo Buffalo New York"},{"name":"Department of Neurology, School of 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