Spinal Muscular Atrophy Type I With False Negative in Newborn Screening: A Case Report

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by the deletion or mutation of the survival motor neuron 1 (SMN1) gene. The establishment of effective newborn screening (NBS) for SMA is important for early diagnosis so that treatment can be administered in the p...

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Detalles Bibliográficos
Autores principales: Hashimoto, Kazuhiko, Yokokawa, Mari, Yamashita, Daisuke, Yuge, Kotaro, Otsubo, Yoshikazu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10445771/
https://www.ncbi.nlm.nih.gov/pubmed/37621829
http://dx.doi.org/10.7759/cureus.42382

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10445771/
https://www.ncbi.nlm.nih.gov/pubmed/37621829
http://dx.doi.org/10.7759/cureus.42382

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