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Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2.

作者信息

Glascock Jacqueline, Sampson Jacinda, Connolly Anne M, Darras Basil T, Day John W, Finkel Richard, Howell R Rodney, Klinger Katherine W, Kuntz Nancy, Prior Thomas, Shieh Perry B, Crawford Thomas O, Kerr Douglas, Jarecki Jill

机构信息

Cure SMA, Elk Grove Village, IL, USA.

Stanford University, Stanford, CA, USA.

出版信息

J Neuromuscul Dis. 2020;7(2):97-100. doi: 10.3233/JND-190468.

DOI:10.3233/JND-190468
PMID:32007960
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7175931/
Abstract
摘要

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本文引用的文献

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Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function.1 型脊肌萎缩症婴儿、儿童和青年患者中注射用依洛硫酸酯酶-n 的疗效：运动功能的初步结果。
Neuromuscul Disord. 2018 Jul;28(7):582-585. doi: 10.1016/j.nmd.2018.05.010. Epub 2018 Jun 1.
2
Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening.通过新生儿筛查诊断为脊髓性肌萎缩症婴儿的治疗算法。
J Neuromuscul Dis. 2018;5(2):145-158. doi: 10.3233/JND-180304.