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Analysis of SMN protein in umbilical cord blood and postnatal peripheral blood of neonates with SMA:...

Analysis of SMN protein in umbilical cord blood and postnatal peripheral blood of neonates with SMA:...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1702272360d24b7d86ce9ed1fc7003d3

Analysis of SMN protein in umbilical cord blood and postnatal peripheral blood of neonates with SMA: a rationale for prompt treatment initiation to prevent SMA development

About this item

Full title

Analysis of SMN protein in umbilical cord blood and postnatal peripheral blood of neonates with SMA: a rationale for prompt treatment initiation to prevent SMA development

Publisher

England: BioMed Central Ltd

Journal title

Orphanet journal of rare diseases, 2025-02, Vol.20 (1), p.91-14, Article 91

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disease caused by insufficient functional survival motor neuron protein (SMN). The SMN expression level in the spinal cord is highest during the 2nd trimester of the foetal period. We previously reported the SMN spot analysis in peripheral blood using imaging flow cytometry (IFC) as a...

Alternative Titles

Full title

Analysis of SMN protein in umbilical cord blood and postnatal peripheral blood of neonates with SMA: a rationale for prompt treatment initiation to prevent SMA development

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_1702272360d24b7d86ce9ed1fc7003d3

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1702272360d24b7d86ce9ed1fc7003d3

Other Identifiers

ISSN

1750-1172

E-ISSN

1750-1172

DOI

10.1186/s13023-025-03597-4

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