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TitleAuthors Date of Issue
Isovaleric acidemia : Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case studyChinen, Yasutsugu; Nakamura, Sadao; Tamashiro, Kunihito; Sakamoto, Osamu; Tashiro, Kyoko; Inokuchi, Takahiro; Nakanishi, KoichiJun-2017
An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosisYamamura, Tomohiko; Nozu, Kandai; Miyoshi, Yuya; Nakanishi, Keita; Fujimura, Junya; Horinouchi, Tomoko; Minamikawa, Shogo; Mori, Nobuo; Fujimaru, Rika; Nakanishi, Koichi; Ninchoji, Takeshi; Kaito, Hiroshi; Taniguchi-Ikeda, Mariko; Morioka, Ichiro; Matsuo, Masafumi; Iijima, Kazumoto4-Dec-2017
Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3Chinen, Yasutsugu; Nakamura, Sadao; Ganaha, Akira; Hayashi, Shin; Inazawa, Johji; Yanagi, Kumiko; Nakanishi, Koichi; Kaname, Tadashi; Naritomi, KenjiFeb-2018
Study protocol: high-dose mizoribine with prednisolone therapy in short-term relapsing steroid-sensitive nephrotic syndrome to prevent frequent relapse (JSKDC05 trial)Hama, Taketsugu; Nakanishi, Koichi; Ishikura, Kenji; Ito, Shuichi; Nakamura, Hidefumi; Sako, Mayumi; Saito-Oba, Mari; Nozu, Kandai; Shima, Yuko; Iijima, Kazumoto; Yoshikawa, Norishige10-Sep-2018
Organoids from Nephrotic Disease-Derived iPSCs Identify Impaired NEPHRIN Localization and Slit Diaphragm Formation in Kidney PodocytesTanigawa, Shunsuke; Islam, Mazharul; Sharmin, Sazia; Naganuma, Hidekazu; Yoshimura, Yasuhiro; Haque, Fahim; Era, Takumi; Nakazato, Hitoshi; Nakanishi, Koichi; Sakuma, Tetsushi; Yamamoto, Takashi; Kurihara, Hidetake; Taguchi, Atsuhiro; Nishinakamura, Ryuichi11-Sep-2018
Study protocol : mycophenolate mofetil as maintenance therapy after rituximab treatment for childhood-onset, complicated, frequently-relapsing nephrotic syndrome or steroid-dependent nephrotic syndrome: a multicenter double-blind, randomized, placebo-controlled trial (JSKDC07)Horinouchi, Tomoko; Sako, Mayumi; Nakanishi, Koichi; Ishikura, Kenji; Ito, Shuichi; Nakamura, Hidefumi; Oba, Saito Mari; Nozu, Kandai; Iijima, Kazumoto1-Nov-2018
Clinical and Genetic Characteristics in Patients With Gitelman SyndromeFujimura, Junya; Nozu, Kandai; Yamamura, Tomohiko; Minamikawa, Shogo; Nakanishi, Keita; Horinouchi, Tomoko; Nagano, China; Sakakibara, Nana; Nakanishi, Koichi; Shima, Yuko; Miyako, Kenichi; Nozu, Yoshimi; Morisada, Naoya; Nagase, Hiroaki; Ninchoji, Takeshi; Kaito, Hiroshi; Iijima, KazumotoJan-2019
A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformationChinen, Yasutsugu; Nakamura, Sadao; Kaneshi, Takuya; Nakayashiro, Mami; Yanagi, Kumiko; Kaname, Tadashi; Naritomi, Kenji; Nakanishi, Koichi13-May-2019
Study protocol : multicenter double-blind, randomized, placebo-controlled trial of rituximab for the treatment of childhood-onset early-stage uncomplicated frequently relapsing or steroid-dependent nephrotic syndrome (JSKDC10 trial)Nagano, China; Sako, Mayumi; Kamei, Koichi; Ishikura, Kenji; Nakamura, Hidefumi; Nakanishi, Koichi; Omori, Takashi; Nozu, Kandai; Iijima, Kazumoto2-Aug-2019
Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndromeYamamura, Tomohiko; Nozu, Kandai; Minamikawa, Shogo; Horinouchi, Tomoko; Sakakibara, Nana; Nagano, China; Aoto, Yuya; Ishiko, Shinya; Nakanishi, Koichi; Shima, Yuko; Nagase, Hiroaki; Rossanti, Rini; Ye, Ming J.; Nozu, Yoshimi; Ishimori, Shingo; Morisada, Naoya; Kaito, Hiroshi; Iijima, KazumotoSep-2019
Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assayHorinouchi, Tomoko; Nozu, Kandai; Yamamura, Tomohiko; Minamikawa, Shogo; Nagano, China; Sakakibara, Nana; Nakanishi, Koichi; Shima, Yuko; Morisada, Naoya; Ishiko, Shinya; Aoto, Yuya; Nagase, Hiroaki; Takeda, Hiroki; Rossanti, Rini; Kaito, Hiroshi; Matsuo, Masafumi; Iijima, Kazumoto3-Sep-2019
Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assayHorinouchi, Tomoko; Yamamura, Tomohiko; Minamikawa, Shogo; Nagano, China; Sakakibara, Nana; Nakanishi, Koichi; Shima, Yuko; Morisada, Naoya; Ishiko, Shinya; Aoto, Yuya; Nagase, Hiroaki; Takeda, Hiroki; Rossanti, Rini; Ishimori, Shingo; Kaito, Hiroshi; Matsuo, Masafumi; Iijima, Kazumoto; Nozu, Kandai2020
Comprehensive genetic diagnosis of Japanese patients with severe proteinuriaNagano, China; Yamamura, Tomohiko; Horinouchi, Tomoko; Aoto, Yuya; Ishiko, Shinya; Sakakibara, Nana; Shima, Yuko; Nakanishi, Koichi; Nagase, Hiroaki; Iijima, Kazumoto; Nozu, Kandai14-Jan-2020
How to resolve confusion in the clinical setting for the diagnosis of heterozygous COL4A3 or COL4A4 gene variants? Discussion and suggestions from nephrologistsImafuku, Aya; Nozu, Kandai; Sawa, Naoki; Nakanishi, Koichi; Ubara, Yoshifumi30-Mar-2020
A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients : clinical and autopsy dataChinen, Yasutsugu; Yanagi, Kumiko; Nakamura, Sadao; Nakayama, Noriko; Kamiya, Motoko; Nakayashiro, Mami; Kaname, Tadashi; Naritomi, Kenji; Nakanishi, Koichi16-Apr-2020
IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndromeTrautmann, Agnes; Vivarelli, Marina; Samuel, Susan; Gipson, Debbie; Sinha, Aditi; Schaefer, Franz; Hui, Ng Kar; Boyer, Olivia; Saleem, Moin A; Feltran, Luciana; Müller-Deile, Janina; Becker, Jan Ulrich; Cano, Francisco; Xu, Hong; Lim, Yam Ngo; Smoyer, William; Anochie, Ifeoma; Nakanishi, Koichi; Hodson, Elisabeth; Haffner, Dieter; International Pediatric Nephrology Association7-May-2020

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