Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe dis...
Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease
About this item
Full title
Author / Creator
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Purpose
To describe a novel biochemical marker in dried blood spots suitable to improve the specificity of newborn screening for Pompe disease.
Methods
The new marker is a ratio calculated between the creatine/creatinine (Cre/Crn) ratio as the numerator and the activity of acid α-glucosidase (GAA) as the denominator. Using Collaborative La...
Alternative Titles
Full title
Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1988266095
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1988266095
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2017.190
