Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Silvana Wijaya"'
Autor:
Emma Tabe Eko Niba, Yogik Onky Silvana Wijaya, Hiroyuki Awano, Naoko Taniguchi, Yasuhiro Takeshima, Hisahide Nishio, Masakazu Shinohara
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 4, p 79 (2021)
Glycogen storage disease type Ia (GSDIa) is an autosomal recessive disorder caused by glucose-6-phosphatase (G6PC) deficiency. GSDIa causes not only life-threatening hypoglycemia in infancy, but also hepatocellular adenoma as a long-term complication
Externí odkaz:
https://doaj.org/article/aca0a38257e740838b0bffab6192e707
Autor:
Tomokazu Kimizu, Shinobu Ida, Kentaro Okamoto, Hiroyuki Awano, Emma Tabe Eko Niba, Yogik Onky Silvana Wijaya, Shin Okazaki, Hideki Shimomura, Tomoko Lee, Koji Tominaga, Shin Nabatame, Toshio Saito, Takashi Hamazaki, Norio Sakai, Kayoko Saito, Haruo Shintaku, Kandai Nozu, Yasuhiro Takeshima, Kazumoto Iijima, Hisahide Nishio, Masakazu Shinohara
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 3, p 45 (2021)
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 inf
Externí odkaz:
https://doaj.org/article/35375ab8c6b047b3ab177e55c89f6e53
Autor:
Oktriani, Risky, Rubi, Dianandha Septiana, Silvana Wijaya, Yogik Onky, Nurrahma, Bira Arumndari, Faizal, Mohamad Fay, Maulidya, Sarair, Adianfra, Brilliant Alendra, Supriyanto, Irwan, Saptandari, Edilburga Wulan, Farmawati, Arta, Sunarti
Publikováno v:
Journal of Community Empowerment for Health; 2023, Vol. 6 Issue 3, p171-175, 5p
Autor:
Yogik Onky Silvana Wijaya, Jamiyan Purevsuren, Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, Yoshihiro Bouike, Dian Kesumapramudya Nurputra, Mawaddah Ar Rochmah, Cempaka Thursina, Sunartini Hapsara, Seiji Yamaguchi, Hisahide Nishio, Masakazu Shinohara
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 2, p 43 (2020)
Spinal muscular atrophy (SMA) is a common neuromuscular disease with autosomal recessive inheritance. The disease gene, SMN1, is homozygously deleted in 95% of SMA patients. Although SMA has been an incurable disease, treatment in infancy with newly
Externí odkaz:
https://doaj.org/article/6dbedc95446f47668cbe657116ccec8c
Autor:
Kayoko Saito, Yasuhiro Takeshima, Takenori Tozawa, Hisahide Nishio, Yuya Takahashi, Hiroyuki Awano, Toshio Saito, Tomoyoshi Shiroshita, Masakazu Shinohara, Tomoyuki Shimazu, Yasufumi Hidaka, Yoriko Noguchi, Shiro Ozasa, Yogik Onky Silvana Wijaya, Takeshi Inoue, Naoya Morisada, Tomohiro Chiyonobu, Takushi Inoue, Emma Tabe Eko Niba, Atsushi Yokoyama, Mawaddah Ar Rohmah, Kentaro Okamoto
Publikováno v:
Brain and Development. 43:745-758
Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous deletion or intragenic mutation of the SMN1 gene. It is well-known that high copy number of its homologous gene, SMN2, modifies the phenoty
Autor:
Silvana Wijaya, David Tan
Publikováno v:
Journal of gynecologic oncology. 33(4)
Autor:
Yoriko Noguchi, Ryosuke Bo, Hisahide Nishio, Hisayuki Matsumoto, Keiji Matsui, Yoshihiko Yano, Masami Sugawara, Go Ueda, Yogik Onky Silvana Wijaya, Emma Tabe Eko Niba, Masakazu Shinohara, Yoshihiro Bouike, Atsuko Takeuchi, Kentaro Okamoto, Toshio Saito, Hideki Shimomura, Tomoko Lee, Yasuhiro Takeshima, Kazumoto Iijima, Kandai Nozu, Hiroyuki Awano
Publikováno v:
Genes. 14:759
The authors wish to make the following correction to this paper [...]
Autor:
Silvana Wijaya, Jerold Loh, Diana Lim, Soon Boon Justin Wong, Jeffrey Low, Joseph Ng, Pearl Tong, Arunachalam Ilancheran, Yi Wan Lim, Siew Eng Lim, Natalie Ngoi, David Tan
Publikováno v:
Gynecologic Oncology. 170:333
Autor:
Yogik Onky Silvana, Wijaya, Emma Tabe Eko, Niba, Hisahide, Nishio, Kentaro, Okamoto, Hiroyuki, Awano, Toshio, Saito, Yasuhiro, Takeshima, Masakazu, Shinohara
Publikováno v:
Genes. 13(4)
Spinal muscular atrophy (SMA) is caused by
Autor:
Rochmah, Mawaddah Ar, Yogik Onky Silvana Wijaya, Harahap, Nur Imma Fatimah, Tode, Chisato, Takeuchi, Atsuko, Ohuchi, Kazuki, Shimazawa, Masamitsu, Hara, Hideaki, Funato, Michinori, Saito,Toshio, Saito, Kayoko, Lai, Poh San, Awano, Hiroyuki, Shinohara, Masakazu, Nishio, Hisahide, Niba, Emma Tabe Eko
Publikováno v:
The Kobe journal of the medical sciences. 66(1):1-11