Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Muc...
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I
About this item
Full title
Author / Creator
Peck, Dawn S. , Lacey, Jean M. , White, Amy L. , Pino, Gisele , Studinski, April L. , Fisher, Rachel , Ahmad, Ayesha , Spencer, Linda , Viall, Sarah , Shallow, Natalie , Siemon, Amy , Hamm, J. Austin , Murray, Brianna K. , Jones, Kelly L. , Gavrilov, Dimitar , Oglesbee, Devin , Raymond, Kimiyo , Matern, Dietrich , Rinaldo, Piero and Tortorelli, Silvia
Publisher
Switzerland: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
Enzyme-based newborn screening for Mucopolysaccharidosis type I (MPS I) has a high false-positive rate due to the prevalence of pseudodeficiency alleles, often resulting in unnecessary and costly follow up. The glycosaminoglycans (GAGs), dermatan sulfate (DS) and heparan sulfate (HS) are both substrates for α-l-iduronidase (IDUA). These GAGs are el...
Alternative Titles
Full title
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I
Authors, Artists and Contributors
Author / Creator
Lacey, Jean M.
White, Amy L.
Pino, Gisele
Studinski, April L.
Fisher, Rachel
Ahmad, Ayesha
Spencer, Linda
Viall, Sarah
Shallow, Natalie
Siemon, Amy
Hamm, J. Austin
Murray, Brianna K.
Jones, Kelly L.
Gavrilov, Dimitar
Oglesbee, Devin
Raymond, Kimiyo
Matern, Dietrich
Rinaldo, Piero
Tortorelli, Silvia
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_d1951ec02fb74365a4d7fe391d671752
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_d1951ec02fb74365a4d7fe391d671752
Other Identifiers
ISSN
2409-515X
E-ISSN
2409-515X
DOI
10.3390/ijns6010010
