المؤلفون: Suzuki-Ajihara, Sayaka, Saito-Tsuruoka, Megumi, Harashima, Hiroko, Arai, Katsumi, Koide, Hiroyoshi, Yatsuka, Yukiko, Imai-Okazaki, Atsuko, Okazaki, Yasushi, Murayama, Kei, Numakura, Chikahiko, Akioka, Yuko, Ohtake, Akira

المساهمون: Japan Agency for Medical Research and Development, Japan Society for the Promotion of Science

المصدر: Molecular Genetics and Metabolism Reports ; volume 35, page 100966 ; ISSN 2214-4269

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology

الإتاحة: https://doi.org/10.1016/j.ymgmr.2023.100966Test
https://api.elsevier.com/content/article/PII:S2214426923000125?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2214426923000125?httpAccept=text/plainTest

المؤلفون: Mikami-Saito, Yasuko, Wada, Yoichi, Arai-Ichinoi, Natsuko, Nakajima, Yoko, Suzuki-Ajihara, Sayaka, Murayama, Kei, Tanaka, Toju, Numakura, Chikahiko, Hamazaki, Takashi, Igarashi, Noboru, Esaki, Hiroyuki, Kagawa, Reiko, Kono, Tomotaka, Sawada, Takaaki, Sawada, Tomo, Nyuzuki, Hiromi, Hirai, Hiroki, Fumoto, Seiko, Matsuda, Junko, Matsunaga, Ayako, Maruyama, Shinsuke, Yamaguchi, Kenichiro, Yoshino, Miwa, Totsune, Eriko, Kikuchi, Atsuo, Ohura, Toshihiro, Kure, Shigeo

المصدر: Genet Med ; ISSN:1530-0366 ; Volume:26 ; Issue:8

مصطلحات موضوعية: Clinical spectrum, Galactose mutarotase deficiency, Galactosemia type IV, Genetic spectrum, Prevalence

العلاقة: https://doi.org/10.1016/j.gim.2024.101165Test; https://pubmed.ncbi.nlm.nih.gov/38762772Test

الإتاحة: https://doi.org/10.1016/j.gim.2024.101165Test
https://pubmed.ncbi.nlm.nih.gov/38762772Test

المؤلفون: Takase, Kaoru, Susa, Shinji, Sato, Hidenori, Hada, Yurika, Nagaoka, Kyoko, Takakubo, Noe, Karasawa, Shigeru, Kameda, Wataru, Numakura, Chikahiko, Ishizawa, Kenichi

المصدر: Diabetology International; Apr2024, Vol. 15 Issue 2, p203-211, 9p

المؤلفون: Kido, Jun, Häberle, Johannes, Sugawara, Keishin, Tanaka, Toju, Nagao, Masayoshi, Sawada, Takaaki, Wada, Yoichi, Numakura, Chikahiko, Murayama, Kei, Watanabe, Yoriko, Kojima-Ishii, Kanako, Sasai, Hideo, Kosugiyama, Kiyotaka, Nakamura, Kimitoshi

المصدر: Kido, Jun; Häberle, Johannes; Sugawara, Keishin; Tanaka, Toju; Nagao, Masayoshi; Sawada, Takaaki; Wada, Yoichi; Numakura, Chikahiko; Murayama, Kei; Watanabe, Yoriko; Kojima-Ishii, Kanako; Sasai, Hideo; Kosugiyama, Kiyotaka; Nakamura, Kimitoshi (2022). Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan. Journal of Inherited Metabolic Disease, 45(3):431-444.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/229872/1/ZORA_229872.pdfTest; https://www.zora.uzh.ch/id/eprint/229872/8/ZORA229872.pdfTest; https://www.zora.uzh.ch/id/eprint/229872/9/ZORA229872_Suppl.pdfTest; info:pmid/35142380; urn:issn:0141-8955

الإتاحة: https://doi.org/10.5167/uzh-22987210.1002/jimd.12483Test
https://www.zora.uzh.ch/id/eprint/229872Test/
https://www.zora.uzh.ch/id/eprint/229872/1/ZORA_229872.pdfTest
https://www.zora.uzh.ch/id/eprint/229872/8/ZORA229872.pdfTest
https://www.zora.uzh.ch/id/eprint/229872/9/ZORA229872_Suppl.pdfTest

المؤلفون: Kido, Jun, Haberle, Johannes, Tanaka, Toju, Nagao, Masayoshi, Wada, Yoichi, Numakura, Chikahiko, Bo, Ryosuke, Nyuzuki, Hiromi, Dateki, Sumito, Maruyama, Shinsuke, Murayama, Kei, Yoshida, Shinichiro, Nakamura, Kimitoshi

المصدر: Kido, Jun; Haberle, Johannes; Tanaka, Toju; Nagao, Masayoshi; Wada, Yoichi; Numakura, Chikahiko; Bo, Ryosuke; Nyuzuki, Hiromi; Dateki, Sumito; Maruyama, Shinsuke; Murayama, Kei; Yoshida, Shinichiro; Nakamura, Kimitoshi (2023). Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening. Journal of Inherited Metabolic Disease:Epub ahead of print.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/253025/1/J_of_Inher_Metab_Disea___2023___Kido___Improved_sensitivity_and_specificity_for_citrin_deficiency_using_selected_amino.pdfTest; info:pmid/37681292; urn:issn:0141-8955

الإتاحة: https://doi.org/10.5167/uzh-25302510.1002/jimd.12673Test
https://www.zora.uzh.ch/id/eprint/253025Test/
https://www.zora.uzh.ch/id/eprint/253025/1/J_of_Inher_Metab_Disea___2023___Kido___Improved_sensitivity_and_specificity_for_citrin_deficiency_using_selected_amino.pdfTest

المؤلفون: Takase, Kaoru, Susa, Shinji, Sato, Hidenori, Hada, Yurika, Nagaoka, Kyoko, Takakubo, Noe, Karasawa, Shigeru, Kameda, Wataru, Numakura, Chikahiko, Ishizawa, Kenichi

المصدر: Diabetology International ; ISSN 2190-1678 2190-1686

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Internal Medicine

الإتاحة: https://doi.org/10.1007/s13340-023-00669-3Test

المؤلفون: Hayasaka, Kiyoshi, Numakura, Chikahiko

المصدر: The Application of Clinical Genetics ; volume Volume 11, page 163-170 ; ISSN 1178-704X

الإتاحة: https://doi.org/10.2147/tacg.s162084Test
https://www.dovepress.com/getfile.php?fileID=46897Test

المؤلفون: Zukeran, Hiroaki, Ikegawa, Kento, Numakura, Chikahiko, Hasegawa, Yukihiro

المصدر: Endocrines; Mar2023, Vol. 4 Issue 1, p110-116, 7p

مصطلحات موضوعية: X-linked genetic disorders, HYPOPHOSPHATEMIA, OSTEOMALACIA, PATIENT compliance, THERAPEUTIC use of monoclonal antibodies

المؤلفون: Kagami, Masayo, Nagasaki, Keisuke, Kosaki, Rika, Horikawa, Reiko, Naiki, Yasuhiro, Saitoh, Shinji, Tajima, Toshihiro, Yorifuji, Tohru, Numakura, Chikahiko, Mizuno, Seiji, Nakamura, Akie, Matsubara, Keiko, Fukami, Maki, Ogata, Tsutomu

المصدر: Genetics in Medicine ; volume 19, issue 12, page 1356-1366 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/gim.2017.53Test
http://www.nature.com/articles/gim201753.pdfTest
http://www.nature.com/articles/gim201753Test
https://api.elsevier.com/content/article/PII:S1098360021047535?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021047535?httpAccept=text/plainTest

المؤلفون: Kanno, Miyako, Suzuki, Mitsuyoshi, Tanikawa, Ken, Numakura, Chikahiko, Matsuzawa, Shu-ichi, Niihori, Tetsuya, Aoki, Yoko, Matsubara, Yoichi, Makino, Satoshi, Tamiya, Gen, Nakano, Satoshi, Funayama, Ryo, Shirota, Matsuyuki, Nakayama, Keiko, Mitsui, Tetsuo, Hayasaka, Kiyoshi

المصدر: Journal of Human Genetics ; volume 67, issue 7, page 393-397 ; ISSN 1434-5161 1435-232X

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s10038-022-01017-0Test
https://www.nature.com/articles/s10038-022-01017-0.pdfTest
https://www.nature.com/articles/s10038-022-01017-0Test