অনুসন্ধান ফলাফলগুলি - Ryosuke Bo

False positive cases of elevated tetradecenoyl carnitine in newborn mass screening showed significant loss of body weight অনুযায়ী Ryosuke Bo, Hiroyuki Awano, Kosuke Nishida, Kazumichi Fujioka, Atsushi Nishiyama, Osamu Miyake, Kazumoto Iijima

সম্পূর্ণ পাঠ পাওয়ার জন্য

A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis অনুযায়ী Ryosuke Bo, Yuki Hasegawa, Kenji Yamada, Hironori Kobayashi, Takeshi Taketani, Seiji Fukuda, Seiji Yamaguchi

সম্পূর্ণ পাঠ পাওয়ার জন্য

Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype অনুযায়ী Kenji Yamada, Yoshimitsu Osawa, Hironori Kobayashi, Ryosuke Bo, Yuichi Mushimoto, Yuki Hasegawa, Seiji Yamaguchi, Takeshi Taketani

সম্পূর্ণ পাঠ পাওয়ার জন্য

The perioperative transition of serum biomarkers of a 1.5-year-old boy with very-long-chain acyl-CoA dehydrogenase deficiency অনুযায়ী Ryosuke Bo, Hiroyuki Awano, Kenji Yamada, Mayu Ooi, Yuichi Okata, Yuko Bitoh, Satoshi Mizobuchi, Kazumoto Iijima

সম্পূর্ণ পাঠ পাওয়ার জন্য

A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth অনুযায়ী Kenji Yamada, Ryosuke Bo, Hironori Kobayashi, Yuki Hasegawa, Mako Ago, Seiji Fukuda, Seiji Yamaguchi, Takeshi Taketani

সম্পূর্ণ পাঠ পাওয়ার জন্য

Total Intramuscular Fat Fraction of Thigh Muscles as a Predictor of Nusinersen Efficacy in Pediatric SMA Type II and III অনুযায়ী Kiiko Iketani, Hiroyuki Awano, Hiromi Hashimura, Shoko Sonehara, Hiroaki Hanafusa, Yoshinori Nambu, Hisahide Nishio, Kandai Nozu, Ryosuke Bo

সম্পূর্ণ পাঠ পাওয়ার জন্য

Serum titin/creatinine ratio as a biomarker for discriminating disease severity in Duchenne and Becker muscular dystrophies অনুযায়ী Yoshinori Nambu, Kayo Osawa, Taku Shirakawa, Aiko Sunami, Shoko Sonehara, Ryosuke Bo, Kandai Nozu, Masafumi Matsuo, Hiroyuki Awano

সম্পূর্ণ পাঠ পাওয়ার জন্য

Fragmented QRS in Lateral Leads on Electrocardiography Is Associated with Cardiac Dysfunction and Left Ventricular Dilation in Duchenne Muscular Dystrophy অনুযায়ী Tetsushi Yamamoto, Shuichiro Ogawa, Yusuke Ide, Kokoro Miyazaki, Aiko Sunami, Yoshinori Nambu, Ryosuke Bo, Masafumi Matsuo, Hiroyuki Awano

সম্পূর্ণ পাঠ পাওয়ার জন্য

Epidemiological characterization and clinical utility of the multiplex PCR FilmArray™ Gastrointestinal Panel at a tertiary university hospital in Japan, 2024 অনুযায়ী Yoshitaka Asagai, Hiroshi Yamaguchi, Tomohiko Yamamura, Mari Kusuki, Kenichiro Ohnuma, Tomoko Horinouchi, Ryosuke Bo, Nobuyuki Yamamoto, Yoshihiko Yano, Hiroaki Nagase, Kandai Nozu

সম্পূর্ণ পাঠ পাওয়ার জন্য

Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening অনুযায়ী Ryosuke Bo, Ikuma Musha, Kenji Yamada, Hironori Kobayashi, Yuki Hasegawa, Hiroyuki Awano, Masato Arao, Toru Kikuchi, Takeshi Taketani, Akira Ohtake, Seiji Yamaguchi, Kazumoto Iijima

সম্পূর্ণ পাঠ পাওয়ার জন্য

A Four-Year Prospective Pilot Study of Newborn Screening for Late-Onset Proximal Urea-Cycle Disorders in Hyogo Prefecture in Japan অনুযায়ী Tomoko Lee, Miki Matsui, Yoko Yokoyama, Ryosuke Bo, Hiroyuki Awano, Dai Kataoka, Masaaki Ueda, Toshinori Minato, Hironori Kobayashi, Yuki Hasegawa, Kei Murayama, Yasuhiro Takeshima

সম্পূর্ণ পাঠ পাওয়ার জন্য

A noncontact vital sign sensor demonstrating a strong correlation with an electrocardiogram electrode and a CO2 sensor অনুযায়ী Tatsuya Nagano, Nobuyuki Yamamoto, Sae Shinomiya, Hiroshi Kato, Mariko Okamoto, Daisuke Hazama, Ryosuke Bo, Tomohiko Yamamura, Takumi Imai, Koji Fukuzawa, Takuya Funayama, Koji Kano, Naoko Katsurada

সম্পূর্ণ পাঠ পাওয়ার জন্য

Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy অনুযায়ী Takanori Onuki, Makiko Tajika, Yohei Sugiyama, Masaru Shimura, Keiko Ichimoto, Toju Tanaka, Hiromi Nyuzuki, Motomichi Kosuga, Ohsuke Migita, Tetsuya Ito, Hideo Sasai, Ryosuke Bo, Junpei Hamada, Takashi Hamazaki, Norio Sakai, Takahito Inoue, Kimitoshi Nakamura, Torayuki Okuyama, Kei Murayama

সম্পূর্ণ পাঠ পাওয়ার জন্য

Nonrandomized Allocation of Steroid Therapy in Patients With Fukuyama Congenital Muscular Dystrophy: Study Protocol for a Phase II Clinical Trial অনুযায়ী Terumi Murakami, Takatoshi Sato, Takami Ishizuka, Harumasa Nakamura, Hisateru Tachimori, Hiroko Harada, Hideki Oi, Kenji Hatano, Mari S. Oba, Kumiko Ishiguro, Minobu Shichiji, Yuki Kihara, Yasuhiro Takeshima, Mariko Taniguchi‐Ikeda, Ayako Hattori, Yuko Shimizu‐Motohashi, Hiroyuki Awano, Ryosuke Bo, Satoru Nagata, Keiko Ishigaki

সম্পূর্ণ পাঠ পাওয়ার জন্য

Ex Vivo Expanded Allogeneic Mesenchymal Stem Cells with Bone Marrow Transplantation Improved Osteogenesis in Infants with Severe Hypophosphatasia অনুযায়ী Takeshi Taketani M.D., Ph.D., Chigusa Oyama, Aya Mihara, Yuka Tanabe, Mariko Abe, Tomohiro Hirade, Satoshi Yamamoto, Ryosuke Bo, Rie Kanai, Taku Tadenuma, Yuko Michibata, Soichiro Yamamoto, Miho Hattori, Yoshihiro Katsube, Hiroe Ohnishi, Mari Sasao, Yasuaki Oda, Koji Hattori, Shunsuke Yuba, Hajime Ohgushi, Seiji Yamaguchi

সম্পূর্ণ পাঠ পাওয়ার জন্য