The Impact of Post-Analytical Tools on New York Screening for Krabbe Disease and Pompe Disease

nork Martin, Monica M., Wilson, Ryan, Caggana, Michele, Orsini, Joseph J.
Argitaratua izan da Int J Neonatal Screen (2020)

Newborn Screening for Krabbe’s Disease

nork Orsini, Joseph J., Saavedra-Matiz, Carlos A., Gelb, Michael H., Caggana, Michele
Argitaratua izan da J Neurosci Res (2016)

Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report

nork Corre, Camille S., Matern, Dietrich, Pellegrino, Joan E., Saavedra-Matiz, Carlos A., Orsini, Joseph J., Thompson-Stone, Robert
Argitaratua izan da Int J Neonatal Screen (2021)

Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: Application to a small-scale population study for five lysosomal storage disord...

nork Orsini, Joseph J., Martin, Monica M., Showers, Amanda L., Bodamer, Olaf A., Zhang, X. Kate, Gelb, Michael H., Caggana, Michele
Argitaratua 2012

Diagnosis of Niemann-Pick C1 by Measurement of Bile Acid Biomarkers in Archived Newborn Dried Blood Spots

nork Jiang, Xuntian, Sidhu, Rohini, Orsini, Joseph J., Farhat, Nicole Y., Porter, Forbes D., Berry-Kravis, Elizabeth, Schaffer, Jean E., Ory, Daniel S.
Argitaratua izan da Mol Genet Metab (2018)

Newborn Screening for X-Linked Adrenoleukodystrophy

nork Moser, Ann B., Jones, Richard O., Hubbard, Walter C., Tortorelli, Silvia, Orsini, Joseph J., Caggana, Michele, Vogel, Beth H., Raymond, Gerald V.
Argitaratua izan da Int J Neonatal Screen (2016)

Lymphocyte Galactocerebrosidase Activity by Liquid Chromatography-Tandem Mass Spectrometry for Post-Newborn Screening Evaluation of Krabbe Disease

nork Liao, Hsuan-Chieh, Spacil, Zdenek, Ghomashchi, Farideh, Escolar, Maria L., Kurtzberg, Joanne, Orsini, Joseph J., Turecek, Frantisek, Scott, C. Ronald, Gelb, Michael H.
Argitaratua izan da Clin Chem (2017)

Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease

nork 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.
Argitaratua izan da Orphanet J Rare Dis (2018)

The New York Pilot Newborn Screening Program for Lysosomal Storage Diseases: Report of the First 65,000 Infants

nork 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.
Argitaratua izan da Genet Med (2018)

Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease

nork Lin, Na, Huang, Jingyu, Violante, Sara, Orsini, Joseph J., Caggana, Michele, Hughes, Erin E., Stevens, Colleen, DiAntonio, Lisa, Liao, Hsuan Chieh, Hong, Xinying, Ghomashchi, Farideh, Kumar, Arun Babu, Zhou, Hui, Kornreich, Ruth, Wasserstein, Melissa, Gelb, Michael H., Yu, Chunli
Argitaratua izan da Clin Chem (2017)

Development of a Bile Acid-Based Newborn Screen for Niemann-Pick C Disease

nork Jiang, Xuntian, Sidhu, Rohini, Mydock, Laurel, Hsu, Fong-Fu, Covey, Douglas F., Scherrer, David E., Earley, Brian, Gale, Sarah E., Farhat, Nicole Y., Porter, Forbes D., Dietzen, Dennis J., Orsini, Joseph J., Berry-Kravis, Elizabeth, Zhang, Xiaokui, Reunert, Janice, Marquardt, Thorsten, Runz, Heiko, Giugliani, Roberto, Schaffer, Jean E., Ory, Daniel S.
Argitaratua izan da Sci Transl Med (2016)

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots

nork 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., Mansky, Raphaela Goldbach, Moser, Anne B, Jones, Richard O, Vanderver, Adeline
Argitaratua izan da Mol Genet Metab (2017)

MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines

nork 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
Argitaratua izan da J Inherit Metab Dis (2021)

A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools

nork Rowe, Alexander D., Stoway, Stephanie D., Åhlman, Henrik, Arora, Vaneet, Caggana, Michele, Fornari, Anna, Hagar, Arthur, Hall, Patricia L., Marquardt, Gregg C., Miller, Bobby J., Nixon, Christopher, Norgan, Andrew P., Orsini, Joseph J., Pettersen, Rolf D., Piazza, Amy L., Schubauer, Neil R., Smith, Amy C., Tang, Hao, Tavakoli, Norma P., Wei, Sainan, Zetterström, Rolf H., Currier, Robert J., Mørkrid, Lars, Rinaldo, Piero
Argitaratua izan da Int J Neonatal Screen (2021)