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

页码：S45 / S46

页数：2

共 50 条

[41] Treatment strategies for lysosomal storage disorders [J].

Beck, Michael .

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2018, 60 (01) :13-18

[42] Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience [J].

Burton, Barbara K. ;

Charrow, Joel ;

Hoganson, George E. ;

Waggoner, Darrell ;

Tinkle, Brad ;

Braddock, Stephen R. ;

Schneider, Michael ;

Grange, Dorothy K. ;

Nash, Claudia ;

Shryock, Heather ;

Barnett, Rebecca ;

Shao, Rong ;

Basheeruddin, Khaja ;

Dizikes, George .

JOURNAL OF PEDIATRICS, 2017, 190 :130-135

[43] New approaches to multiplex newborn screening of lysosomal storage disorders by tandem mass spectrometry [J].

Turecek, Frantisek ;

Gelb, Michael ;

Scott, C. .

ABSTRACTS OF PAPERS OF THE AMERICAN CHEMICAL SOCIETY, 2015, 249

[44] EVALUATION OF MS/MS FOR THE DETECTION OF LYSOSOMAL STORAGE DISORDERS BY NEWBORN SCREENING: FABRY DISEASE [J].

Scott, C. R. ;

Bellamy, G. ;

Daiker, J. ;

Fox, A. C. ;

Shaunak, S. ;

Gelb, M. ;

Turecek, F. .

MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) :71-71

[45] Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy [J].

Burlina, Alberto B. ;

Polo, Giulia ;

Salviati, Leonardo ;

Duro, Giovanni ;

Zizzo, Carmela ;

Dardis, Andrea ;

Bembi, Bruno ;

Cazzorla, Chiara ;

Rubert, Laura ;

Zordan, Roberta ;

Desnick, Robert J. ;

Burlina, Alessandro P. .

JOURNAL OF INHERITED METABOLIC DISEASE, 2018, 41 (02) :209-219

[46] Newborn screening for lysosomal storage disorders: Clinical evaluation of a two-tier strategy [J].

Meikle, PJ ;

Ranieri, E ;

Simonsen, H ;

Rozaklis, T ;

Ramsay, SL ;

Whitfield, PD ;

Fuller, M ;

Christensen, E ;

Skovby, F ;

Hopwood, JJ .

PEDIATRICS, 2004, 114 (04) :909-916

[47] PRECISION NEWBORN SCREENING FOR THREE LYSOSOMAL DISORDERS IN KENTUCKY [J].

Matern, D. ;

Tortorelli, S. ;

Oglesbee, D. ;

Gavrilov, D. ;

Raymond, K. ;

Hart, Jeremy ;

Mott, Lea ;

Rinaldo, Piero .

MOLECULAR GENETICS AND METABOLISM, 2018, 123 (03) :250-250

[48] Newborn screening for lysosomal storage diseases: Issues and concerns [J].

Marsden, Deborah .

MOLECULAR GENETICS AND METABOLISM, 2008, 93 (02) :S31-S31

[49] Precision newborn screening for three lysosomal disorders in Kentucky [J].

Matern, Dietrich ;

Tortorelli, Silvia ;

Oglesbee, Devin ;

Gavrilov, Dimitar ;

Raymond, Kimiyo ;

Hart, Jeremy ;

Mott, Lea ;

Rinaldo, Piero .

MOLECULAR GENETICS AND METABOLISM, 2018, 123 (02) :S93-S93

[50] Reducing false positives in newborn screening for lysosomal disorders [J].

Washburn, Jon ;

Brannen, Candice ;

Bhattacharjee, Arindam .

MOLECULAR GENETICS AND METABOLISM, 2020, 129 (02) :S160-S160

← 1 2 3 4 5 →