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Newborn screening of mucopolysaccharidoses: past, present, and future

Newborn screening of mucopolysaccharidoses: past, present, and future

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2388827863

Newborn screening of mucopolysaccharidoses: past, present, and future

About this item

Full title

Newborn screening of mucopolysaccharidoses: past, present, and future

Publisher

England: Nature Publishing Group

Journal title

Journal of human genetics, 2020-07, Vol.65 (7), p.557-567

Language

English

Formats

Publication information

Publisher

England: Nature Publishing Group

More information

Scope and Contents

Contents

Mucopolysaccharidoses (MPS) are a subtype of lysosomal storage disorders (LSDs) characterized by the deficiency of the enzyme involved in the breakdown of glycosaminoglycans (GAGs). Mucopolysaccharidosis type I (MPS I, Hurler Syndrome) was endorsed by the U.S. Secretary of the Department of Health and Human Services for universal newborn screening...

Alternative Titles

Full title

Newborn screening of mucopolysaccharidoses: past, present, and future

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_2388827863

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2388827863

Other Identifiers

ISSN

1434-5161

E-ISSN

1435-232X

DOI

10.1038/s10038-020-0744-8

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