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Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots.
Wijaya, Yogik Onky Silvana; Purevsuren, Jamiyan; Harahap, Nur Imma Fatimah; Niba, Emma Tabe Eko; Bouike, Yoshihiro; Nurputra, Dian Kesumapramudya; Rochmah, Mawaddah Ar; Thursina, Cempaka; Hapsara, Sunartini; Yamaguchi, Seiji; Nishio, Hisahide; Shinohara, Masakazu.
Afiliação
  • Wijaya YOS; Department of Community Medicine and Social Healthcare Science, Division of Epidemiology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan; yogik.onky@gmail.com (Y.O.S.W.); niba@med.kobe-u.ac.jp (E.T.E.N.); mashino@med.kobe-u.ac.jp (M.S.).
  • Purevsuren J; Medical Genetics Laboratory, National Center for Maternal and Child Health, Khuvisgalchdyn Street, Bayangol District, Ulaanbaatar 16060, Mongolia; p_jamiyand@yahoo.com.
  • Harahap NIF; Department of Clinical Pathology and Laboratory Medicine, Faculty of Medicine, Universitas Gadjah Mada, Radiopoetro Building 5th floor, Jl. Farmako, Sekip Utara, Yogyakarta 55281, Indonesia; imma.harahap@ugm.ac.id.
  • Niba ETE; Department of Community Medicine and Social Healthcare Science, Division of Epidemiology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan; yogik.onky@gmail.com (Y.O.S.W.); niba@med.kobe-u.ac.jp (E.T.E.N.); mashino@med.kobe-u.ac.jp (M.S.).
  • Bouike Y; Faculty of Nutrition, Kobe Gakuin University, 518 Arise, Ikawadani-cho, Nishi-ku, Kobe 651-2180, Japan; bouike@nutr.kobegakuin.ac.jp.
  • Nurputra DK; Department of Pediatrics, Faculty of Medicine, Universitas Gadjah Mada, Jl. Kesehatan No.1, Sekip, Yogyakarta 55281, Indonesia; dian.k.nurputra@ugm.ac.id (D.K.N.); sunartini_hapsara@ugm.ac.id (S.H.).
  • Rochmah MA; Department of Neurology, Faculty of Medicine, Universitas Gadjah Mada, Jl. Kesehatan No.1, Sekip, Yogyakarta 55281, Indonesia; mawaddah.arr@gmail.com (M.A.R.); cempakathursina@ugm.ac.id (C.T.).
  • Thursina C; Department of Neurology, Faculty of Medicine, Universitas Gadjah Mada, Jl. Kesehatan No.1, Sekip, Yogyakarta 55281, Indonesia; mawaddah.arr@gmail.com (M.A.R.); cempakathursina@ugm.ac.id (C.T.).
  • Hapsara S; Department of Pediatrics, Faculty of Medicine, Universitas Gadjah Mada, Jl. Kesehatan No.1, Sekip, Yogyakarta 55281, Indonesia; dian.k.nurputra@ugm.ac.id (D.K.N.); sunartini_hapsara@ugm.ac.id (S.H.).
  • Yamaguchi S; Department of Pediatrics, Shimane University School of Medicine, 89-1 Enya, Izumo, Shimane 693-8501, Japan; seijiyam@med.shimane-u.ac.jp.
  • Nishio H; Department of Community Medicine and Social Healthcare Science, Division of Epidemiology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan; yogik.onky@gmail.com (Y.O.S.W.); niba@med.kobe-u.ac.jp (E.T.E.N.); mashino@med.kobe-u.ac.jp (M.S.).
  • Shinohara M; Faculty of Rehabilitation, Kobe Gakuin University, 518 Arise, Ikawadani-cho, Nishi-ku, Kobe 651-2180, Japan.
Int J Neonatal Screen ; 6(2): 43, 2020 06.
Article em En | MEDLINE | ID: mdl-33073034
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: Int J Neonatal Screen Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: Int J Neonatal Screen Ano de publicação: 2020 Tipo de documento: Article