Impact of newborn screening on families in the case of Pompe disease

被引:1
|
作者
Pruniski, Brianna [1 ]
Lisi, Emily [1 ]
Ali, Nadia [1 ]
机构
[1] Emory Univ, Atlanta, GA 30322 USA
关键词
D O I
10.1016/j.ymgme.2016.11.282
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
273
引用
收藏
页码:S110 / S110
页数:1
相关论文
共 50 条
  • [31] Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement
    Kishnani, Priya S.
    Hwu, Wuh-Liang
    PEDIATRICS, 2017, 140
  • [32] Newborn screening for Pompe disease in South Carolina: Outcomes of early detection for late-onset Pompe disease phenotypes
    Buch, Laura D.
    Champaigne, Neena L.
    MOLECULAR GENETICS AND METABOLISM, 2023, 138 (02) : 20 - 20
  • [33] The impact of newborn screening on the age of patients referred for testing and with confirmed diagnoses of Pompe disease and mucopolysaccharidosis type I
    Khoja, Ibrahim T.
    Peck, Dawn
    White, Amy
    Studinski, April
    Oglesbee, Devin
    Matern, Dietrich
    Gavrilov, Dimitar
    Schultz, Matthew
    Tortorelli, Silvia
    Hall, Patricia
    MOLECULAR GENETICS AND METABOLISM, 2025, 144 (02)
  • [34] 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
  • [35] A SINGLE-CENTER 3 YEAR EXPERIENCE WITH NEWBORN SCREENING FOR POMPE DISEASE
    Hitchins, Lauren
    Charrow, Joel
    Burton, Barbara
    MOLECULAR GENETICS AND METABOLISM, 2019, 126 (03) : 306 - 306
  • [36] NEWBORN SCREENING FOR POMPE DISEASE: AN APPROACH TO THE SURVEILLANCE OF LATE-ONSET PATIENTS
    Ahrens-Nicklas, Rebecca
    Cuddapah, Sanmati
    Dougherty, Patricia
    Flickinger, Jean
    Ganetzky, Rebecca
    Ierardi-Curto, Lynne
    Lin, Kimberly
    O'Connor, Matthew
    Payan, Irma
    Weiss, Brenda
    Yudkoffl, Marc
    Ficicioglu, Can
    MOLECULAR GENETICS AND METABOLISM, 2018, 123 (03) : 211 - 211
  • [37] Muscle ultrasound: A useful tool in newborn screening for infantile onset pompe disease
    Hwang, Hsuen-En
    Hsu, Ting-Rong
    Lee, Yueh-Hui
    Wang, Hsin-Kai
    Chiou, Hong-Jen
    Niu, Dau-Ming
    MEDICINE, 2017, 96 (44) : 1 - 6
  • [38] 2-year experience of newborn screening of Pompe disease in a Japanese region
    Momosaki, Ken
    Nakamura, Kimitoshi
    Yoshida, Shinichiro
    Endo, Fumio
    MOLECULAR GENETICS AND METABOLISM, 2016, 117 (02) : S82 - S82
  • [39] Diagnostic challenges for Pompe disease newborn screening in a pre-term infant
    Marrero-Stein, M. Valerie
    Kronn, David
    MOLECULAR GENETICS AND METABOLISM, 2018, 123 (02) : S91 - S91
  • [40] Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants
    Burton, Barbara K.
    Charrow, Joel
    Hoganson, George E.
    Fleischer, Julie
    Grange, Dorothy K.
    Braddock, Stephen R.
    Hitchins, Lauren
    Hickey, Rachel
    Christensen, Katherine M.
    Groepper, Daniel
    Shryock, Heather
    Smith, Pamela
    Shao, Rong
    Basheeruddin, Khaja
    INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2020, 6 (01)