Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots
All worldwide newborn screening (NBS) for lysosomal storage diseases (LSDs) is performed as a first-tier test by measurement of lysosomal enzymatic activities in dried blood spots (DBS). The currently two available methodologies used for measurement of enzymatic activities are tandem mass spectromet...
Saved in:
Main Authors: | Michael H. Gelb (Author), Zoltan Lukacs (Author), Enzo Ranieri (Author), Peter C. J. I. Schielen (Author) |
---|---|
Format: | Book |
Published: |
MDPI AG,
2018-12-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Newborn Screening for Lysosomal Storage Diseases: Methodologies, Screen Positive Rates, Normalization of Datasets, Second-Tier Tests, and Post-Analysis Tools
by: Michael H. Gelb
Published: (2018) -
The Importance of Assay Imprecision near the Screen Cutoff for Newborn Screening of Lysosomal Storage Diseases
by: Bruce H. Robinson, et al.
Published: (2019) -
At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening
by: Zoltan Lukacs, et al.
Published: (2020) -
Common criteria among States for storage and use of dried blood spot specimens after newborn screening
by: Carlo Petrini, et al.
Published: (2012) -
False Positive Diagnosis of Lysosomal Storage Disease Based on Dried Blood Spot Sample; Leucocyte Number of a Challenging Factor
by: Eser Yıldırım Sözmen, et al.
Published: (2018)