PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan
PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan
About this item
Full title
Author / Creator
Noguchi, Yoriko , Bo, Ryosuke , Nishio, Hisahide , Matsumoto, Hisayuki , Matsui, Keiji , Yano, Yoshihiko , Sugawara, Masami , Ueda, Go , Wijaya, Yogik Onky Silvana , Niba, Emma Tabe Eko , Shinohara, Masakazu , Bouike, Yoshihiro , Takeuchi, Atsuko , Okamoto, Kentaro , Saito, Toshio , Shimomura, Hideki , Lee, Tomoko , Takeshima, Yasuhiro , Iijima, Kazumoto , Nozu, Kandai and Awano, Hiroyuki
Publisher
Switzerland: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
Spinal muscular atrophy (SMA) is a common devastating neuromuscular disorder, usually involving homozygous deletion of the
gene. Newly developed drugs can improve the motor functions of infants with SMA when treated in the early stage. To ensure early diagnosis, newborn screening for SMA (SMA-NBS) via PCR-based genetic testing with dried blood s...
Alternative Titles
Full title
PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan
Authors, Artists and Contributors
Author / Creator
Bo, Ryosuke
Nishio, Hisahide
Matsumoto, Hisayuki
Matsui, Keiji
Yano, Yoshihiko
Sugawara, Masami
Ueda, Go
Wijaya, Yogik Onky Silvana
Niba, Emma Tabe Eko
Shinohara, Masakazu
Bouike, Yoshihiro
Takeuchi, Atsuko
Okamoto, Kentaro
Saito, Toshio
Shimomura, Hideki
Lee, Tomoko
Takeshima, Yasuhiro
Iijima, Kazumoto
Nozu, Kandai
Awano, Hiroyuki
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9690968
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9690968
Other Identifiers
ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes13112110
