Development of Efficient and Effective Newborn Screening (NBS) Strategies for Lysosomal Storage Disorders (LSD)

被引：0
作者：
Matern, Dietrich [1 ]
Tortorelli, Silvia [1 ]
Oglesbee, Devin [1 ]
Gavrilov, Dimitar [1 ]
Rinaldo, Piero [1 ]
Raymond, Kimiyo [1 ]
机构：
[1] Mayo Clin, Coll Med, Rochester, MN USA
来源：
MOLECULAR GENETICS AND METABOLISM | 2012年 / 105卷 / 02期
关键词：
D O I：
10.1016/j.ymgme.2011.11.111
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：S45 / S46
页数：2
相关论文
共 50 条
[31]   Incidence of 4 Lysosomal Storage Disorders From 4 Years of Newborn Screening [J].
Hopkins, Patrick V. ;
Klug, Tracy ;
Vermette, Lacey ;
Raburn-Miller, Julie ;
Kiesling, Jami ;
Rogers, Sharmini .
JAMA PEDIATRICS, 2018, 172 (07) :696-697
[32]   Ethical Considerations When Including Lysosomal Storage Disorders in Newborn Screening Programs [J].
Catherine Walsh Vockley ;
Andrea M. Atherton .
Current Genetic Medicine Reports, 2015, 3 (4) :177-190
[33]   Newborn screening for lysosomal storage disorders: Tandemmass spectrometry to quantitate enzymatic activity [J].
Duffey, Trisha ;
Gelb, Michael H. ;
Turecek, Frantisek ;
Scott, C. Ron ;
Khaliq, Tanvir .
MOLECULAR GENETICS AND METABOLISM, 2010, 99 (02) :S16-S16
[34]   A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders [J].
Sanders, Karen A. ;
Gavrilov, Dimitar K. ;
Oglesbee, Devin ;
Raymond, Kimiyo M. ;
Tortorelli, Silvia ;
Hopwood, John J. ;
Lorey, Fred ;
Majumdar, Ramanath ;
Kroll, Charles A. ;
McDonald, Amber M. ;
Lacey, Jean M. ;
Turgeon, Coleman T. ;
Tucker, Justin N. ;
Tang, Hao ;
Currier, Robert ;
Isaya, Grazia ;
Rinaldo, Piero ;
Matern, Dietrich .
INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2020, 6 (02)
[35]   Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China [J].
Wang, Xin ;
Sun, Yun ;
Guan, Xian-Wei ;
Wang, Yan-Yun ;
Hong, Dong-Yang ;
Zhang, Zhi-Lei ;
Li, Ya-Hong ;
Yang, Pei-Ying ;
Jiang, Tao ;
Xu, Zheng-feng .
GENOME MEDICINE, 2025, 17 (01)
[36]   Newborn screening for lysosomal storage diseases -: A reality? [J].
Bodamer, Olaf ;
Muehl, A. .
MOLECULAR GENETICS AND METABOLISM, 2007, 92 (04) :S19-S19
[37]   Newborn screening for lysosomal storage diseases -: A reality? [J].
Bodamer, O. A. ;
Muehl, A. .
MOLECULAR GENETICS AND METABOLISM, 2007, 90 (03) :248-248
[38]   Newborn screening for lysosomal storage diseases. [J].
Scott, CR .
MOLECULAR GENETICS AND METABOLISM, 2005, 84 (03) :197-197
[39]   Newborn screening for lysosomal disorders: The Ohio experience [J].
Berry, Lisa ;
Linard, Sharon ;
Leslie, Nancy ;
Ream, Margie .
MOLECULAR GENETICS AND METABOLISM, 2022, 135 (02) :S23-S23
[40]   Neonatal screening for lysosomal storage disorders [J].
Fletcher, Janice ;
Wilcken, Bridget .
LANCET, 2012, 379 (9813) :294-295
12345