Newborn screening for Krabbe disease: perceived and current ethical issues von Orsini, Joseph J

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The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants von Wasserstein, Melissa P., Caggana, Michele, Bailey, Sean M., Desnick, Robert J., Edelmann, Lisa, Estrella, Lissette, Holzman, Ian, Kelly, Nicole R., Kornreich, Ruth, Kupchik, S. Gabriel, Martin, Monica, Nafday, Suhas M., Wasserman, Randi, Yang, Amy, Yu, Chunli, Orsini, Joseph J.

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The future of newborn screening for lysosomal disorders von Wasserstein, Melissa P., Orsini, Joseph J., Goldenberg, Aaron, Caggana, Michele, Levy, Paul A., Breilyn, Margo, Gelb, Michael H.

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Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease von Kwon, Jennifer M, Matern, Dietrich, Kurtzberg, Joanne, Wrabetz, Lawrence, Gelb, Michael H, Wenger, David A, Ficicioglu, Can, Waldman, Amy T, Burton, Barbara K, Hopkins, Patrick V, Orsini, Joseph J

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Newborn Screening for X-Linked Adrenoleukodystrophy von Moser, Ann B, Jones, Richard O, Hubbard, Walter C, Tortorelli, Silvia, Orsini, Joseph J, Caggana, Michele, Vogel, Beth H, Raymond, Gerald V

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VUS: Variant of uncertain significance or very unclear situation? von Kemp, Stephan, Orsini, Joseph J, Ebberink, Merel S, Engelen, Marc, Lund, Troy C

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Making Decisions About Krabbe Disease Newborn Screening von Kurtzberg, Joanne, Matern, Dietrich, Orsini, Joseph J., Gelb, Michael, Pike-Langenfeld, Stacy, Brackbill, Lesa, Grantham, Anna, Steyermark, Anthony C.

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MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines von Mallack, Eric J., Turk, Bela R., Yan, Helena, Price, Carrie, Demetres, Michelle, Moser, Ann B., Becker, Catherine, Hollandsworth, Kim, Adang, Laura, Vanderver, Adeline, Van Haren, Keith, Ruzhnikov, Maura, Kurtzberg, Joanne, Maegawa, Gustavo, Orchard, Paul J., Lund, Troy C., Raymond, Gerald V., Regelmann, Molly, Orsini, Joseph J., Seeger, Elisa, Kemp, Stephan, Eichler, Florian, Fatemi, Ali

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Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots von Jiang, Xuntian, Sidhu, Rohini, Orsini, Joseph J., Farhat, Nicole Y., Porter, Forbes D., Berry-Kravis, Elizabeth, Schaffer, Jean E., Ory, Daniel S.

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Newborn screening for Krabbe disease in New York State: the first eight years’ experience von Orsini, Joseph J., Kay, Denise M., Saavedra-Matiz, Carlos A., Wenger, David A., Duffner, Patricia K., Erbe, Richard W., Biski, Chad, Martin, Monica, Krein, Lea M., Nichols, Matthew, Kurtzberg, Joanne, Escolar, Maria L., Adams, Darius J., Arnold, Georgianne L., Iglesias, Alejandro, Galvin-Parton, Patricia, Kronn, David F., Kwon, Jennifer M., Levy, Paul A., Pellegrino, Joan E., Shur, Natasha, Wasserstein, Melissa P., Caggana, Michele

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Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots von Armangue, Thais, Orsini, Joseph J., Takanohashi, Asako, Gavazzi, Francesco, Conant, Alex, Ulrick, Nicole, Morrissey, Mark A., Nahhas, Norah, Helman, Guy, Gordish-Dressman, Heather, Orcesi, Simona, Tonduti, Davide, Stutterd, Chloe, van Haren, Keith, Toro, Camilo, Iglesias, Alejandro D., van der Knaap, Marjo S., Goldbach Mansky, Raphaela, Moser, Anne B., Jones, Richard O., Vanderver, Adeline

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Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease von Tortorelli, Silvia, Eckerman, Jason S, Orsini, Joseph J, Stevens, Colleen, Hart, Jeremy, Hall, Patricia L, Alexander, John J, Gavrilov, Dimitar, Oglesbee, Devin, Raymond, Kimiyo, Matern, Dietrich, Rinaldo, Piero

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Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State von Wasserstein, Melissa P., Andriola, Mary, Arnold, Georgianne, Aron, Alan, Duffner, Patricia, Erbe, Richard W., Escolar, Maria L., Estrella, Lissette, Galvin-Parton, Patricia, Iglesias, Alejandro, Kay, Denise M., Kronn, David F., Kurtzberg, Joanne, Kwon, Jennifer M., Langan, Thomas J., Levy, Paul A., Naidich, Thomas P., Orsini, Joseph J., Pellegrino, Joan E., Provenzale, James M., Wenger, David A., Caggana, Michele

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The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease von Guenzel, Adam J., Turgeon, Coleman T., Nickander, Kim K., White, Amy L., Peck, Dawn S., Pino, Gisele B., Studinski, April L., Prasad, Vinod K., Kurtzberg, Joanne, Escolar, Maria L., Lasio, Maria Laura Duque, Pellegrino, Joan E., Sakonju, Ai, Hickey, Rachel E., Shallow, Natalie M., Ream, Margie A., Orsini, Joseph J., Gelb, Michael H., Raymond, Kimiyo, Gavrilov, Dimitar K., Oglesbee, Devin, Rinaldo, Piero, Tortorelli, Silvia, Matern, Dietrich

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Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease von Chuang, Wei-Lien, Pacheco, Josh, Zhang, X. Kate, Martin, Monica M., Biski, Chad K., Keutzer, Joan M., Wenger, David A., Caggana, Michele, Orsini, Joseph J.

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Newborn screening for Krabbe's disease von Orsini, Joseph J., Saavedra-Matiz, Carlos A., Gelb, Michael H., Caggana, Michele

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Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One) von Brower, Amy, Chan, Kee, Williams, Marc, Berry, Susan, Currier, Robert, Rinaldo, Piero, Caggana, Michele, Gaviglio, Amy, Wilcox, William, Steiner, Robert, Holm, Ingrid A, Taylor, Jennifer, Orsini, Joseph J, Brunelli, Luca, Adelberg, Joanne, Bodamer, Olaf, Viall, Sarah, Scharfe, Curt, Wasserstein, Melissa, Chen, Jin Y, Escolar, Maria, Goldenberg, Aaron, Swoboda, Kathryn, Ficicioglu, Can, Matern, Dieter, Lee, Rachel, Watson, Michael

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The Impact of Post-Analytical Tools on New York Screening for Krabbe Disease and Pompe Disease von Martin, Monica M., Wilson, Ryan, Caggana, Michele, Orsini, Joseph J.

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Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease von Thompson-Stone, Robert, Ream, Margie A., Gelb, Michael, Matern, Dietrich, Orsini, Joseph J., Levy, Paul A., Rubin, Jennifer P., Wenger, David A., Burton, Barbara K., Escolar, Maria L., Kurtzberg, Joanne

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Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's... von Saavedra-Matiz, Carlos A., Luzi, Paola, Nichols, Matthew, Orsini, Joseph J., Caggana, Michele, Wenger, David A.

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