Should we consider newborn screening for Pompe disease?

被引:1
|
作者
Lacombe, D. [1 ,2 ]
Verloes, A. [3 ]
机构
[1] CHU Bordeaux, Hop Pellegrin, Serv Genet Med, F-33076 Bordeaux, France
[2] Univ Bordeaux, Lab MRGM, EA4576, F-33076 Bordeaux, France
[3] Hop Robert Debre, AP HP, Inserm, Dept Med Genet,UMR676, F-75019 Paris, France
来源
ARCHIVES DE PEDIATRIE | 2014年 / 21卷 / 06期
关键词
LYSOSOMAL STORAGE DISORDERS; ENZYME REPLACEMENT THERAPY; ALPHA-GLUCOSIDASE; DIAGNOSIS;
D O I
10.1016/j.arcped.2014.03.013
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:561 / 563
页数:3
相关论文
共 50 条
  • [1] Newborn Screening for Pompe Disease
    Sawada, Takaaki
    Kido, Jun
    Nakamura, Kimitoshi
    [J]. INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2020, 6 (02)
  • [2] Newborn Screening for Pompe Disease
    Bodamer, Olaf A.
    Scott, C. Ronald
    Giugliani, Roberto
    [J]. PEDIATRICS, 2017, 140
  • [3] NEWBORN SCREENING FOR POMPE DISEASE IN JAPAN
    Oda, E. O.
    Tanaka, T. T.
    Kosuga, M. K.
    Osawa, M. O.
    Okuyama, T. O.
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 : S137 - S137
  • [4] Newborn screening for Pompe disease in Japan
    Oda, Eri
    Tanaka, Toju
    Migita, Ohsuke
    Kosuga, Motomichi
    Fukushi, Masaru
    Okumiya, Toshika
    Osawa, Makiko
    Okuyama, Torayuki
    [J]. MOLECULAR GENETICS AND METABOLISM, 2011, 104 (04) : 560 - 565
  • [5] An update on newborn screening for Pompe disease
    Keutzer, Joan
    Hwu, Wuh-Liang
    Chien, Yin-Hsiu
    Bodamer, Olaf
    Muehl, Adolf
    Zhang, X. Kate
    [J]. MOLECULAR GENETICS AND METABOLISM, 2008, 93 (02) : S26 - S26
  • [6] Development of Newborn Screening for Pompe Disease
    Hwu, Wuh-Liang
    Chien, Yin-Hsiu
    [J]. INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2020, 6 (01)
  • [7] Newborn Screening for Pompe Disease: Pennsylvania Experience
    Ficicioglu, Can
    Ahrens-Nicklas, Rebecca C.
    Barch, Joshua
    Cuddapah, Sanmati R.
    DiBoscio, Brenda S.
    DiPerna, James C.
    Gordon, Patricia L.
    Henderson, Nadene
    Menello, Caitlin
    Luongo, Nicole
    Ortiz, Damara
    Xiao, Rui
    [J]. INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2020, 6 (04)
  • [8] Newborn screening for Pompe disease: An update, 2011
    Burton, Barbara K.
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2012, 160C (01) : 8 - 12
  • [9] The Pennsylvania newborn screening experience for Pompe disease
    Henderson, Nadene D.
    Ficicioglu, Can
    Ortiz, Damara
    Ahrens-Nicklas, Rebecca
    Gordon, Patricia
    Leradi-Curto, Lynne
    Cuddapah, Sanmati
    El-Gharbawy, Areeg
    Lichter-Konecki, Uta
    Sebastien, Jessica
    Byers, Stephanie
    Dobrowolski, Steven
    Higa, Leigh Ann
    Vockley, Gerard
    Culley, Lani
    [J]. MOLECULAR GENETICS AND METABOLISM, 2017, 120 (1-2) : S64 - S64
  • [10] Newborn screening for Pompe disease: The Indiana experience
    McPheron, Molly
    Sapp, Katherine
    [J]. GENETICS IN MEDICINE, 2022, 24 (03) : S17 - S18