Newborn screening programs for spinal muscular atrophy worldwide: are we there yet?

被引：0
|
作者：
Vrscaj, E. [1 ]
Dangouloff, T. [2 ]
Osredkar, D. [1 ]
Servais, L. [2 ,3 ]
机构：
[1] Univ Med Ctr Ljubljana, Univ Ch Hosp, Dept Paediat Neurol, Ljubljana, Slovenia
[2] Ctr Hosp Reg Citadelle, Ctr Reference Liegeois Malad Neuromusculaires, Liege, Belgium
[3] Univ Oxford, Dept Paediat, Specialised Translat Res Oxford Neuromuscular Grp, Oxford, England
来源：
NEUROMUSCULAR DISORDERS | 2023年 / 33卷
关键词：
D O I：
10.1016/j.nmd.2023.07.275
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
P73
引用
收藏
页码：S135 / S135
页数：1
相关论文
共 50 条
  • [31] Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy
    Qing Ke
    Zheng-Yan Zhao
    Jerry R. Mendell
    Mei Baker
    Veronica Wiley
    Jennifer M. Kwon
    Lindsay N. Alfano
    Anne M. Connolly
    Catherine Jay
    Hanna Polari
    Emma Ciafaloni
    Ming Qi
    Robert C. Griggs
    Michele A. Gatheridge
    World Journal of Pediatrics, 2019, 15 : 219 - 225
  • [32] Comparison of liquid microbead arrays for the molecular identification of individuals with spinal muscular atrophy in newborn screening programs
    Pyatt, R. E.
    Mihal, D. C.
    Prior, T. W.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2007, 9 (05): : 655 - 655
  • [33] Variability in newborn screening across Canada: spinal muscular atrophy and beyond
    Groulx-Boivin, Emilie
    Osman, Homira
    Chakraborty, Pranesh
    Lintern, Stacey
    Oskoui, Maryam
    Selby, Kathy
    Van Caeseele, Paul
    Wyatt, Alexandra
    McMillan, Hugh
    NEUROLOGY, 2023, 100 (17)
  • [34] Spinal Muscular Atrophy Treatments, Newborn Screening, and the Creation of a Neurogenetics Urgency
    Butterfield, Russell J.
    SEMINARS IN PEDIATRIC NEUROLOGY, 2021, 38
  • [35] DEPISMA: a prefiguring newborn screening project for spinal muscular atrophy in France
    Calmels, Nadege
    Biancalana, Valerie
    Lacombe, Didier
    Haushalter, Virginie
    Raclet, Virginie
    Reboul, Marie-Pierre
    Romain, Sarah
    Stalens, Caroline
    Vaidie, Amandine
    Laugel, Vincent
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 514 - 515
  • [36] Newborn screening for spinal muscular atrophy in Japan: One year of experience
    Sawada, Takaaki
    Kido, Jun
    Sugawara, Keishin
    Yoshida, Shinichiro
    Ozasa, Shiro
    Nomura, Keiko
    Okada, Kentaro
    Fujiyama, Natsumi
    Nakamura, Kimitoshi
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2022, 32
  • [37] Newborn screening for spinal muscular atrophy: The Wisconsin first year experience
    Baker, Mei W.
    Mochal, Sean T.
    Dawe, Sandra J.
    Wiberley-Bradford, Amy E.
    Cogley, Michael F.
    Zeitler, Bethany R.
    Piro, Zachary D.
    Harmelink, Mathew M.
    Kwon, Jennifer M.
    NEUROMUSCULAR DISORDERS, 2022, 32 (02) : 135 - 141
  • [38] Concerns About Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy
    Schwartz, Oliver
    Pechmann, Astrid
    Kirschner, Janbernd
    JAMA PEDIATRICS, 2024, 178 (09) : 954 - 955
  • [39] Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in England
    Weidlich, Diana
    Servais, Laurent
    Kausar, Imran
    Howells, Ruth
    Bischof, Matthias
    NEUROLOGY AND THERAPY, 2023, 12 (04) : 1205 - 1220
  • [40] Newborn genetic screening: About the spinal muscular atrophy program (DEPISMA)
    Lacombe, Didier
    Calmels, Nadege
    Andre, Carole
    Reboul, Marie-Pierre
    Biancalana, Valerie
    Bitoun, Anais
    Cottet, Christian
    de Castelmur, Marie
    Haushalter, Virginie
    Helot, Isabelle
    Nourisson, Elsa
    Philippe, Elodie
    Pommier, Valentine
    Arveller, Benoit
    Nabarette, Herve
    de Feraudy, Yvan
    Raclet, Virginie
    Ramousset, Carole
    Reneaud, Helene
    Richard, Hugo
    Romain, Sarah
    Bouffard-Dubeau, Catherine
    Pomies, Christine
    Attarian, Shahram
    Stalens, Caroline
    Vaidie, Amandine
    Espil-Taris, Caroline
    Laugel, Vincent
    BULLETIN DE L ACADEMIE NATIONALE DE MEDECINE, 2024, 208 (01): : 86 - 94
12345