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Spinal muscular atrophy type 1: A fatal case in a 1‐year‐old girl with delayed diagnosis

Spinal muscular atrophy type 1: A fatal case in a 1‐year‐old girl with delayed diagnosis

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_21c5af8d682842f4ac1d80cb5f14d7ad

Spinal muscular atrophy type 1: A fatal case in a 1‐year‐old girl with delayed diagnosis

About this item

Full title

Spinal muscular atrophy type 1: A fatal case in a 1‐year‐old girl with delayed diagnosis

Publisher

England: John Wiley & Sons, Inc

Journal title

Clinical Case Reports, 2024-02, Vol.12 (2), p.e8513-n/a

Language

English

Formats

Publication information

Publisher

England: John Wiley & Sons, Inc

More information

Scope and Contents

Contents

Key Clinical Message
Spinal muscular atrophy (SMA) is a growing clinical concern, necessitating higher awareness and early detection. This case study focuses on the difficulties and advances in detecting and treating SMA. It emphasizes the value of early detection, interdisciplinary care, genetic testing, and novel therapeutics in terms of impro...

Alternative Titles

Full title

Spinal muscular atrophy type 1: A fatal case in a 1‐year‐old girl with delayed diagnosis

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_21c5af8d682842f4ac1d80cb5f14d7ad

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_21c5af8d682842f4ac1d80cb5f14d7ad

Other Identifiers

ISSN

2050-0904

E-ISSN

2050-0904

DOI

10.1002/ccr3.8513

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