scholarly journals Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers

2015 ◽  
Vol 25 (2) ◽  
pp. 373-384 ◽  
Author(s):  
Emily C. Lisi ◽  
Shawn E. McCandless
Keyword(s):  
Newborn Screening ◽  
Healthcare Providers ◽  
Lysosomal Storage Disorders ◽  
Lysosomal Storage ◽  
Storage Disorders

scholarly journals Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders

2018 ◽  
Vol 4 (12) ◽  
pp. 1688-1696 ◽  
Author(s):  
Philipp Skrinjar ◽  
Markus Schwarz ◽  
Stefan Lexmüller ◽  
Thomas P. Mechtler ◽  
Maximilian Zeyda ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Newborn Screening ◽  
Lysosomal Storage Disorders ◽  
Lysosomal Storage ◽  
Modular Assembly ◽  
Storage Disorders

Newborn screening for lysosomal storage disorders

2006 ◽  
Vol 88 (4) ◽  
pp. 307-314 ◽  
Author(s):  
Peter J. Meikle ◽  
Dallas J. Grasby ◽  
Caroline J. Dean ◽  
Debbie L. Lang ◽  
Michelle Bockmann ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Lysosomal Storage Disorders ◽  
Lysosomal Storage ◽  
Storage Disorders

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy

2017 ◽  
Vol 41 (2) ◽  
pp. 209-219 ◽  
Author(s):  
Alberto B. Burlina ◽  
Giulia Polo ◽  
Leonardo Salviati ◽  
Giovanni Duro ◽  
Carmela Zizzo ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Lysosomal Storage Disorders ◽  
Tandem Mass ◽  
Lysosomal Storage ◽  
North East ◽  
Storage Disorders

scholarly journals Newborn Screening of Lysosomal Storage Disorders

2010 ◽  
Vol 56 (7) ◽  
pp. 1071-1079 ◽  
Author(s):  
Deborah Marsden ◽  
Harvey Levy
Keyword(s):  
Newborn Screening ◽  
Screening Method ◽  
Lysosomal Storage Disorders ◽  
Krabbe Disease ◽  
Lysosomal Storage ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Mucopolysaccharidosis I ◽  
Technological Advances ◽  
Storage Disorders

Abstract Background: Newborn screening is a state-based public health program established as a means for the early detection and treatment of certain medical conditions to minimize developmental disability and mortality. The program was initiated more than 40 years ago to detect and prevent phenylketonuria. Recent technological advances have expanded the scope of newborn screening to include more than 30 inborn errors of metabolism. Consideration is now being given to inclusion of screening for lysosomal storage disorders (LSDs). Content: Some lysosomal storage disorders (LSDs) express early in infancy or childhood and are treatable. Initiation of treatment in presymptomatic patients or in syptomatic patients before important symptoms are present may improve the long-term outcome. Therefore, early diagnosis is critical. Based on the availability of therapy and development of a screening method, 6 of the more than 40 known LSDs are candidates for newborn screening in the US: Gaucher disease, Pompe disease, Fabry disease, Niemann-Pick disease, mucopolysaccharidosis I, and Krabbe disease. This report reviews the history of newborn screening, the technology that has allowed for expanded screening during the last decade, LSDs and their treatment, and the evolving methods that might allow additional expansion of newborn screening to include certain LSDs. Summary: Recent and evolving technological advances may be implemented for newborn screening for LSDs. This screening will identify presymptomatic newborns, allowing for early treatment and prevention or limitation of morbidity otherwise associated with these inherited rare diseases.

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