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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Publié dans:Int J Neonatal Screen
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: MDPI 2021
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC8293226/
https://ncbi.nlm.nih.gov/pubmed/34287247
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns7030045
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