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Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan

Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2905522601

Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan

About this item

Full title

Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan

Publisher

Switzerland: MDPI AG

Journal title

Genes, 2023-12, Vol.14 (12), p.2211

Language

English

Formats

Publication information

Publisher

Switzerland: MDPI AG

More information

Scope and Contents

Contents

Newborn screening (NBS) for spinal muscular atrophy (SMA) is necessary, as favorable outcomes can be achieved by treatment with disease-modifying drugs in early infancy. Although SMA-NBS has been initiated in Japan, its clinical results have not been fully reported. We report the findings of the initial 2.5 years of a pilot SMA-NBS of approximately...

Alternative Titles

Full title

Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_2905522601

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2905522601

Other Identifiers

ISSN

2073-4425

E-ISSN

2073-4425

DOI

10.3390/genes14122211

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