In this data article we provide a detailed standard operating procedure for performing a tandem mass spectrometry, multiplex assay of 6 lysosomal enzymes for newborn screening of the lysosomal storage diseases Mucopolysaccharidosis-I, Pompe, Fabry, Niemann-Pick-A/B, Gaucher, and Krabbe, (Elliott, et al., 2016) [1]. We also provide the mass spectrometry peak areas for the product and internal standard ions typically observed with a dried blood spot punch from a random newborn, and we provide the daily variation of the daily mean activities for all 6 enzymes
Lysosomal storage disorders (LSD) are chronic progressive diseases that have a devastating impact on...
The increasing availability of treatments and the importance of early intervention have stimulated i...
ABSTRACT: Tandem mass spectrometry for the multiplex and quantitative analysis of enzyme activities ...
AbstractIn this data article we provide a detailed standard operating procedure for performing a tan...
OBJECTIVES: High-throughput mass spectrometry methods have been developed to screen newborns for lys...
lysosomal enzymes that cause Fabry, Gaucher, Krabbe, Niemann–Pick A/B, and Pompe diseases is warrant...
Abstract Background: Interest in screening methods for lysosomal storage diseases (LSDs) has increa...
All worldwide newborn screening (NBS) for lysosomal storage diseases (LSDs) is performed as a first-...
BACKGROUND: Treatments now available for mucopo-lysaccharidosis I require early detection for optimu...
Early diagnosis of lysosomal storage diseases (LSDs) through newborn screening (NBS) has been adapte...
ObjectiveTo evaluate the use of protein markers using immune-quantification assays and of metabolite...
Prospective full-population newborn screening for multiple lysosomal storage disorders (LSDs) is cur...
All of the worldwide newborn screening (NBS) for lysosomal storage diseases (LSDs) is done by measur...
of acid-glucosidase (GAA), is a lysosomal storage dis-order that manifests itself in its most severe...
Astract: Lysosomal storage disorders (LSDs) are characterized by the accumulation of lipids, glycoli...
Lysosomal storage disorders (LSD) are chronic progressive diseases that have a devastating impact on...
The increasing availability of treatments and the importance of early intervention have stimulated i...
ABSTRACT: Tandem mass spectrometry for the multiplex and quantitative analysis of enzyme activities ...
AbstractIn this data article we provide a detailed standard operating procedure for performing a tan...
OBJECTIVES: High-throughput mass spectrometry methods have been developed to screen newborns for lys...
lysosomal enzymes that cause Fabry, Gaucher, Krabbe, Niemann–Pick A/B, and Pompe diseases is warrant...
Abstract Background: Interest in screening methods for lysosomal storage diseases (LSDs) has increa...
All worldwide newborn screening (NBS) for lysosomal storage diseases (LSDs) is performed as a first-...
BACKGROUND: Treatments now available for mucopo-lysaccharidosis I require early detection for optimu...
Early diagnosis of lysosomal storage diseases (LSDs) through newborn screening (NBS) has been adapte...
ObjectiveTo evaluate the use of protein markers using immune-quantification assays and of metabolite...
Prospective full-population newborn screening for multiple lysosomal storage disorders (LSDs) is cur...
All of the worldwide newborn screening (NBS) for lysosomal storage diseases (LSDs) is done by measur...
of acid-glucosidase (GAA), is a lysosomal storage dis-order that manifests itself in its most severe...
Astract: Lysosomal storage disorders (LSDs) are characterized by the accumulation of lipids, glycoli...
Lysosomal storage disorders (LSD) are chronic progressive diseases that have a devastating impact on...
The increasing availability of treatments and the importance of early intervention have stimulated i...
ABSTRACT: Tandem mass spectrometry for the multiplex and quantitative analysis of enzyme activities ...