Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan
Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan
About this item
Full title
Author / Creator
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 and Shinohara, Masakazu
Publisher
Basel: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Basel: MDPI AG
Subjects
More information
Scope and Contents
Contents
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 incurable, newly developed drugs—nusinersen and onas...
Alternative Titles
Full title
Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_35375ab8c6b047b3ab177e55c89f6e53
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_35375ab8c6b047b3ab177e55c89f6e53
Other Identifiers
ISSN
2409-515X
E-ISSN
2409-515X
DOI
10.3390/ijns7030045
