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Precision newborn screening for lysosomal disorders

Precision newborn screening for lysosomal disorders

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1962432306

Precision newborn screening for lysosomal disorders

About this item

Full title

Precision newborn screening for lysosomal disorders

Publisher

New York: Nature Publishing Group US

Journal title

Genetics in medicine, 2018-08, Vol.20 (8), p.847-854

Language

English

Formats

Publication information

Publisher

New York: Nature Publishing Group US

More information

Scope and Contents

Contents

Purpose
The implementation of newborn screening for lysosomal disorders has uncovered overall poor specificity, psychosocial harm experienced by caregivers, and costly follow-up testing of false-positive cases. We report an informatics solution proven to minimize these issues.
Methods
The Kentucky Department for Public Health outsourced te...

Alternative Titles

Full title

Precision newborn screening for lysosomal disorders

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_1962432306

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1962432306

Other Identifiers

ISSN

1098-3600

E-ISSN

1530-0366

DOI

10.1038/gim.2017.194

How to access this item