Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Chad K. Biski"'
Autor:
Coleman T. Turgeon, Michael H. Gelb, Joseph J. Orsini, Chad K. Biski, Hamid Khaledi, Zackary M. Herbst, Sara Smith, Patrick D DeArmond, Dietrich Matern, Nancy B Shoemaker
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 29, p 29 (2020)
Int J Neonatal Screen
International Journal of Neonatal Screening
Volume 6
Issue 2
Int J Neonatal Screen
International Journal of Neonatal Screening
Volume 6
Issue 2
Measurement of the absolute concentration of the biomarker psychosine in dried blood spots (DBS) is useful for diagnosis and prognosis of Krabbe disease and to support newborn screening of this leukodystrophy. As for assays for more common diseases,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa143fd71be9ca5f04a332c66e349c77
https://doi.org/10.3390/ijns6020029
https://doi.org/10.3390/ijns6020029
Autor:
Thomas J. Langan, Joseph J. Orsini, Maria L. Escolar, Michele D. Poe, Chad K. Biski, Randy L. Carter, Amy Barczykowski, Kabir Jalal
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 21(7)
Purpose Newborn screening for Krabbe disease (KD) originated in New York State in 2006 but has proven to have a high false positive rate and low positive predictive value. To improve accuracy of presymptomatic prediction, we propose a screening tool
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::121f78f2c40f3611149a90175bed4fb5
https://pubmed.ncbi.nlm.nih.gov/30546085
https://pubmed.ncbi.nlm.nih.gov/30546085
Autor:
Chad K. Biski, Joseph J. Orsini, Randy L. Carter, Thomas J. Langan, Kabir Jalal, Amy L. Barcyzkowski, Lawrence Wrabetz, Maria L. Escolar
Publikováno v:
Molecular Genetics and Metabolism. 123:S28-S29
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::639578af41b761096f251a42e3ec28c6
https://doi.org/10.1016/j.ymgme.2017.12.050
https://doi.org/10.1016/j.ymgme.2017.12.050
Autor:
Laura N. Slavin, Matthew Wojcik, Joseph J. Orsini, Carole Elbin, Chad K. Biski, Monica Martin, X. Kate Zhang, Michele Caggana, Joan Keutzer, Wei-Lien Chuang, Mark A. Morrissey
Publikováno v:
Clinical Biochemistry. 42:877-884
Objective The aim of this study was to develop a newborn screening algorithm for Krabbe disease. Design and methods We measured the galactocerebrosidase activity of 139,074 anonymous newborns, 56 known carriers, and 16 Krabbe patients using a tandem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4e4ca95f84a3e08163875752cd37cf6
https://doi.org/10.1016/j.clinbiochem.2009.01.022
https://doi.org/10.1016/j.clinbiochem.2009.01.022
Autor:
Patricia Galvin-Parton, David A. Wenger, Melissa P. Wasserstein, Denise M. Kay, Joan E. Pellegrino, Lea M. Krein, David Kronn, Carlos A. Saavedra-Matiz, Michele Caggana, Richard W. Erbe, Jennifer M. Kwon, Maria L. Escolar, Alejandro D. Iglesias, Chad K. Biski, Natasha Shur, Monica Martin, Georgianne L. Arnold, Joseph J. Orsini, Paul A. Levy, Matthew Nichols, Joanne Kurtzberg, Darius J. Adams, Patricia K. Duffner
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 18(3)
Krabbe disease (KD) results from galactocerebrosidase (GALC) deficiency. Infantile KD symptoms include irritability, progressive stiffness, developmental delay, and death. The only potential treatment is hematopoietic stem cell transplantation. New Y
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cce705e5890c12e28f1928f7d14c75af
https://pubmed.ncbi.nlm.nih.gov/26845105
https://pubmed.ncbi.nlm.nih.gov/26845105
Autor:
Michele Caggana, Jason T. Isabelle, April Parker, Melissa L. Sweeney, Matthew Nichols, Salvatore J. Duva, Chad K. Biski, Lea M. Krein, Allison J. Young, Carlos A. Saavedra-Matiz, Lisa DiAntonio
Publikováno v:
Clinical chemistry. 59(7)
BACKGROUNDDried blood spot (DBS) samples have been widely used in newborn screening (NBS) for the early identification of disease to facilitate the presymptomatic treatment of congenital diseases in newborns. As molecular genetics knowledge and techn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6881d2ba9e4c5f82b389cee63e62246d
https://pubmed.ncbi.nlm.nih.gov/23529705
https://pubmed.ncbi.nlm.nih.gov/23529705
Autor:
X. Kate Zhang, Joseph J. Orsini, David A. Wenger, Joan Keutzer, Michele Caggana, Josh Pacheco, Monica Martin, Wei-Lien Chuang, Chad K. Biski
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 419
Background New York State has screened over 1.2 million newborns for Krabbe disease, and we identified 4 newborns with infantile Krabbe disease. In addition, 6 other newborns were identified with very low galactosylcerebrosidase (GALC) activity. Beca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd1b28169e8910efb1aa4bfd8700cf2e
https://pubmed.ncbi.nlm.nih.gov/23419961
https://pubmed.ncbi.nlm.nih.gov/23419961