Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan

Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder that causes degeneration of anterior horn cells in the human spinal cord and subsequent loss of motor neurons. The severe form of SMA is among the genetic diseases with the highest infant mortality. Although SMA has been considered in...

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Detalles Bibliográficos
Autores principales: Kimizu, Tomokazu, Ida, Shinobu, Okamoto, Kentaro, Awano, Hiroyuki, Niba, Emma Tabe Eko, Wijaya, Yogik Onky Silvana, Okazaki, Shin, Shimomura, Hideki, Lee, Tomoko, Tominaga, Koji, Nabatame, Shin, Saito, Toshio, Hamazaki, Takashi, Sakai, Norio, Saito, Kayoko, Shintaku, Haruo, Nozu, Kandai, Takeshima, Yasuhiro, Iijima, Kazumoto, Nishio, Hisahide, Shinohara, Masakazu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8293226/
https://www.ncbi.nlm.nih.gov/pubmed/34287247
http://dx.doi.org/10.3390/ijns7030045

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8293226/
https://www.ncbi.nlm.nih.gov/pubmed/34287247
http://dx.doi.org/10.3390/ijns7030045

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