An update on newborn screening for Pompe disease

被引：0
|
作者：
Keutzer, Joan [1 ]
Hwu, Wuh-Liang [2 ]
Chien, Yin-Hsiu [2 ]
Bodamer, Olaf [3 ]
Muehl, Adolf [3 ]
Zhang, X. Kate [1 ]
机构：
[1] Genzyme Corp, Cambridge, MA USA
[2] Natl Taiwan Univ, Sch Med, Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10764, Taiwan
[3] Univ Childrens Hosp, Div Biochem & Pediat Genet, Vienna, Austria
来源：
MOLECULAR GENETICS AND METABOLISM | 2008年 / 93卷 / 02期
关键词：
D O I：
10.1016/j.ymgme.2007.10.060
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
48
引用
收藏
页码：S26 / S26
页数：1
相关论文
共 50 条
  • [41] 2-year experience of newborn screening of Pompe disease in a Japanese region
    Momosaki, Ken
    Nakamura, Kimitoshi
    Yoshida, Shinichiro
    Endo, Fumio
    [J]. MOLECULAR GENETICS AND METABOLISM, 2016, 117 (02) : S82 - S82
  • [42] Lessons Learned from Pompe Disease Newborn Screening and Follow-up
    Klug, Tracy L.
    Swartz, Lori B.
    Washburn, Jon
    Brannen, Candice
    Kiesling, Jami L.
    [J]. INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2020, 6 (01)
  • [43] Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening
    Lee, Ni-Chung
    Chang, Kai-Ling
    't Groen, Stijn L. M. In
    de Faria, Douglas O. S.
    Huang, Hsiang-Ju
    Pijnappel, W. W. M. Pim
    Hwu, Wuh-Liang
    Chien, Yin-Hsiu
    [J]. JOURNAL OF PEDIATRICS, 2022, 244 : 139 - +
  • [44] A SINGLE-CENTER 3 YEAR EXPERIENCE WITH NEWBORN SCREENING FOR POMPE DISEASE
    Hitchins, Lauren
    Charrow, Joel
    Burton, Barbara
    [J]. MOLECULAR GENETICS AND METABOLISM, 2019, 127 (03) : 275 - 275
  • [45] Screening for Pompe Disease and Fabry Disease
    Hwu, Wuh-Liang
    Chien, Yin-Hsiu
    Lee, Ni-Chung
    [J]. CLINICAL THERAPEUTICS, 2008, 30 : S77 - S77
  • [46] Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease
    Liao, Hsuan-Chieh
    Chan, Min-Ju
    Yang, Chia-Feng
    Chiang, Chuan-Chi
    Niu, Dau-Ming
    Huang, Chun-Kai
    Gelb, Michael H.
    [J]. CLINICAL CHEMISTRY, 2017, 63 (07) : 1271 - 1277
  • [47] Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges
    Smith, Laurie D.
    Bainbridge, Matthew N.
    Parad, Richard B.
    Bhattacharjee, Arindam
    [J]. INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2020, 6 (02)
  • [48] The Timely Needs for Infantile Onset Pompe Disease Newborn Screening-Practice in Taiwan
    Chiang, Shu-Chuan
    Chien, Yin-Hsiu
    Chang, Kai-Ling
    Lee, Ni-Chung
    Hwu, Wuh-Liang
    [J]. INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2020, 6 (02)
  • [49] MUSCLE ULTRASOUND IN PATIENTS WITH LATE-ONSET POMPE DISEASE IDENTIFIED BY NEWBORN SCREENING
    Jackson, David
    Kishnani, Priya
    [J]. MOLECULAR GENETICS AND METABOLISM, 2023, 138 (03) : 56 - 56
  • [50] Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening
    Jackson, David G.
    Case, Laura E.
    Huggins, Erin
    Holland, Maggie
    Blount, Janet
    Webb, Lisa Hobson
    Kishnani, Priya S.
    [J]. MOLECULAR GENETICS AND METABOLISM REPORTS, 2023, 36
12345