Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Catherine W. Rehder"'
Autor:
Shelly Goomber, Erin Huggins, Catherine W. Rehder, Jennifer L. Cohen, Deeksha S. Bali, Priya S. Kishnani
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Purpose: The addition of Pompe disease (Glycogen Storage Disease Type II) to the Recommended Uniform Screening Panel in the United States has led to an increase in the number of variants of uncertain significance (VUS) and novel variants identified i
Externí odkaz:
https://doaj.org/article/679af5bc69674bcba68ce987b80d72dc
Autor:
Brooke A. Migliore, Linran Zhou, Martin Duparc, Veronica R. Robles, Catherine W. Rehder, Holly L. Peay, Katerina S. Kucera
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 1, p 12 (2022)
Duchenne Muscular Dystrophy (DMD) is a fatal X-linked disorder with a birth prevalence of 19.8:100,000 males worldwide. Elevated concentration of the muscle enzyme creatine kinase-MM (CK-MM) allows for presymptomatic screening of newborns using Dried
Externí odkaz:
https://doaj.org/article/35df2e0d5a154125820dd52ff3857963
Autor:
Katerina S. Kucera, Jennifer L. Taylor, Veronica R. Robles, Kristin Clinard, Brooke Migliore, Beth Lincoln Boyea, Katherine C. Okoniewski, Martin Duparc, Catherine W. Rehder, Scott M. Shone, Zheng Fan, Melissa Raspa, Holly L. Peay, Anne C. Wheeler, Cynthia M. Powell, Donald B. Bailey, Lisa M. Gehtland
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 1, p 20 (2021)
Prior to statewide newborn screening (NBS) for spinal muscular atrophy (SMA) in North Carolina, U.S.A., we offered voluntary screening through the Early Check (EC) research study. Here, we describe the EC experience from October 2018 through December
Externí odkaz:
https://doaj.org/article/ba63968da0e7435f8c7b06b3c82ea9f7
Autor:
Patrick R. Gonzales, Erica F. Andersen, Teneille R. Brown, Vanessa L. Horner, Juli Horwitz, Catherine W. Rehder, Natasha L. Rudy, Nathaniel H. Robin, Erik C. Thorland, null on behalf of the ACMG Laboratory Quality Assurance Committee
Publikováno v:
Genetics in Medicine. 24:255-261
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f0e9c7eb14eb13d283176826af2fdc19
https://doi.org/10.1016/j.gim.2021.10.004
https://doi.org/10.1016/j.gim.2021.10.004
Autor:
Suhrad G Banugaria, Sean N Prater, Trusha T Patel, Stephanie M Dearmey, Christie Milleson, Kathryn B Sheets, Deeksha S Bali, Catherine W Rehder, Julian A J Raiman, Raymond A Wang, Francois Labarthe, Joel Charrow, Paul Harmatz, Pranesh Chakraborty, Amy S Rosenberg, Priya S Kishnani
Publikováno v:
PLoS ONE, Vol 8, Iss 6, p e67052 (2013)
Although enzyme replacement therapy (ERT) is a highly effective therapy, CRIM-negative (CN) infantile Pompe disease (IPD) patients typically mount a strong immune response which abrogates the efficacy of ERT, resulting in clinical decline and death.
Externí odkaz:
https://doaj.org/article/18fa0e438966415a88a3734dd619fdd0