Newborn screening for Pompe disease in New York state: Results from 6 year single center experience

被引:0
|
作者
Fierro, Luca [1 ]
Yang, Amy C. [2 ]
Zeid, Natasha [3 ]
Ganesh, Jaya [1 ]
机构
[1] Icahn Sch Med Mt Sinai, New York, NY 10029 USA
[2] Oregon Hlth & Sci Univ, Portland, OR 97201 USA
[3] Yale New Haven Hlth, New Haven, CT USA
关键词
D O I
10.1016/j.ymgme.2019.11.125
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
116
引用
收藏
页码:S55 / S55
页数:1
相关论文
共 50 条
  • [21] Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State
    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 E.
    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
    GENETICS IN MEDICINE, 2016, 18 (12) : 1235 - 1243
  • [22] Newborn screening of Pompe disease in Japan: 2 years experience
    Momosaki, Ken
    Yoshida, Shinichiro
    Matsumoto, Shirou
    Nakamura, Kimitoshi
    Mitsubuchi, Hiroshi
    Endo, Fumio
    MOLECULAR GENETICS AND METABOLISM, 2015, 114 (02) : S82 - S82
  • [23] Early detection of Pompe disease by newborn screening is feasible: Results from the Taiwan screening program
    Chien, Yin-Hsiu
    Chiang, Shu-Chuan
    Zhang, Xiaokui Kate
    Keutzer, Joan
    Lee, Ni-Chung
    Huang, Ai-Chu
    Chen, Chun-An
    Wu, Mei-Hwan
    Huang, Pei-Hsin
    Tsai, Fu-Jen
    Chen, Yuan-Tsong
    Hwu, Wuh-Liang
    PEDIATRICS, 2008, 122 (01) : E39 - E45
  • [24] Newborn screening for Krabbe disease in Illinois: A single center's experience
    Walsh, Chelsey N.
    Hickey, Rachel E.
    Burton, Barbara K.
    Charrow, Joel
    Kim, Katherine H.
    Quadri, Allegra
    Rubin, Jennifer P.
    Hitchens, Lauren E.
    Baker, Joshua
    MOLECULAR GENETICS AND METABOLISM, 2022, 135 (02) : S125 - S126
  • [25] Characterization of Infants with Idiopathic Transient and Persistent T Cell Lymphopenia Identified by Newborn Screening—a Single-Center Experience in New York State
    Artemio M. Jongco
    Robert Sporter
    Elise Hon
    Omer Elshaigi
    Shouling Zhang
    Foysal Daian
    Emily Bae
    Amanda Innamorato
    Catherine Capo
    Brianne Navetta-Modrov
    David W. Rosenthal
    Vincent R. Bonagura
    Journal of Clinical Immunology, 2021, 41 : 610 - 620
  • [26] IMPROVING PARENTAL EXPERIENCE WITH CYSTIC FIBROSIS NEWBORN SCREENING IN NEW YORK STATE
    Fisher, L.
    Goetz, D. M.
    Giusti, R.
    Grob, R.
    PEDIATRIC PULMONOLOGY, 2015, 50 : 398 - 398
  • [27] Newborn screening for Gaucher disease and MPS I disease: A single center experience in Taiwan
    Chien, Yin-Hsiu
    Lee, Ni-Chung
    Hwu, Wuh-Liang
    Chen, Pin-Wen
    Lee, An-Ju
    MOLECULAR GENETICS AND METABOLISM, 2018, 123 (02) : S31 - S31
  • [28] Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I
    Dorley, M. Christine
    Dizikes, George J.
    Pickens, Charles Austin
    Cuthbert, Carla
    Basheeruddin, Khaja
    Gulamali-Majid, Fizza
    Hetterich, Paul
    Hietala, Amy
    Kelsey, Ashley
    Klug, Tracy
    Lesko, Barbara
    Mills, Michelle
    Moloney, Shawn
    Neogi, Partha
    Orsini, Joseph
    Singer, Douglas
    Petritis, Konstantinos
    INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2023, 9 (01)
  • [29] Characterization of Infants with Idiopathic Transient and Persistent T Cell Lymphopenia Identified by Newborn Screening-a Single-Center Experience in New York State
    Jongco, Artemio M., III
    Sporter, Robert
    Hon, Elise
    Elshaigi, Omer
    Zhang, Shouling
    Daian, Foysal
    Bae, Emily
    Innamorato, Amanda
    Capo, Catherine
    Navetta-Modrov, Brianne
    Rosenthal, David W.
    Bonagura, Vincent R.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2021, 41 (03) : 610 - 620
  • [30] Newborn Screening for Krabbe Disease: the New York State Model - Invited commentary
    Steiner, Robert D.
    PEDIATRIC NEUROLOGY, 2009, 40 (04) : 253 - 255