Newborn Screening for Krabbe’s Disease

Por Orsini, Joseph J., Saavedra-Matiz, Carlos A., Gelb, Michael H., Caggana, Michele
Publicado no J Neurosci Res (2016)

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...

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

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

Por Liao, Hsuan-Chieh, Spacil, Zdenek, Ghomashchi, Farideh, Escolar, Maria L., Kurtzberg, Joanne, Orsini, Joseph J., Turecek, Frantisek, Scott, C. Ronald, Gelb, Michael H.
Publicado no Clin Chem (2017)

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

Por 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
Publicado no Clin Chem (2017)

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

Por 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.
Publicado no Sci Transl Med (2016)

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

Por 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
Publicado no Mol Genet Metab (2017)