Newborn Screening and Birth Prevalence for Spinal Muscular Atrophy in the US

被引：3

作者：

Belter, Lisa ^{[1
]}

Taylor, Jennifer L. ^{[2
]}

Jorgensen, Erica ^{[1
]}

Glascock, Jacqueline ^{[1
]}

Whitmire, Sarah M. ^{[1
]}

Tingey, Jessica J. ^{[1
]}

Schroth, Mary ^{[1
]}

机构：

[1] Cure SMA, 925 Busse Rd, Elk Grove Village, IL 60007 USA

[2] Amer Coll Med Genet & Genom, Bethesda, MD USA

来源：

关键词：

DIAGNOSIS;

D O I：

10.1001/jamapediatrics.2024.1911

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

This cross-sectional study describes the collection and use of state-provided data on newborn screening for spinal muscular atrophy.

引用

页码：946 / 949

页数：4

共 6 条

[1] [Anonymous], 2017, Obstet Gynecol, V129, pe41, DOI 10.1097/AOG.0000000000001952
[2] SPINAL MUSCULAR ATROPHY: DIAGNOSIS AND MANAGEMENT IN A NEW THERAPEUTIC ERA
Arnold, W. David
Kassar, Darine
Kissel, John T.
[J]. MUSCLE & NERVE, 2015, 51 (02) : 157 - 167
[3] Cure SMA, 2022, NEWBORN SCREENING SM
[4] Technical standards and guidelines for spinal muscular atrophy testing
Prior, Thomas W.
Nagan, Narasimhan
Sugarman, Elaine A.
Batish, Sat Dev
Braastad, Corey
[J]. GENETICS IN MEDICINE, 2011, 13 (07) : 686 - 694
[5] Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens
Sugarman, Elaine A.
Nagan, Narasimhan
Zhu, Hui
Akmaev, Viatcheslav R.
Zhou, Zhaoqing
Rohlfs, Elizabeth M.
Flynn, Kerry
Hendrickson, Brant C.
Scholl, Thomas
Sirko-Osadsa, Deborah Alexa
Allitto, Bernice A.
[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2012, 20 (01) : 27 - 32
[6] A multi-source approach to determine SMA incidence and research ready population
Verhaart, Ingrid E. C.
Robertson, Agata
Leary, Rebecca
McMacken, Grace
Koenig, Kirsten
Kirschner, Janbernd
Jones, Cynthia C.
Cook, Suzanne F.
Lochmueller, Hanns
[J]. JOURNAL OF NEUROLOGY, 2017, 264 (07) : 1465 - 1473