Publications by authors named "Rika Fujimaru"

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Congenital Diaphragmatic Hernia and Congenital Nephrotic Syndrome in a Low-Birth-Weight Infant: A Case Report.
Yotaro Misaki, Ryo Oi, Taiki Haga, Takahiro Ishida, Takaaki Sakaguchi, Rika Fujimaru

Case Rep Pediatr· October 2025

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Identification of clinical factors related to antibody-mediated immune response to the subfornical organ.
Akari Nakamura-Utsunomiya, Satoshi Goda, Seiichi Hayakawa, Sakata Sonoko, Ewout J Hoorn, Rika Fujimaru

Clin Endocrinol (Oxf)· July 2022

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Child Neurology: Pathologically Confirmed Thrombotic Microangiopathy Caused by Onasemnogene Abeparvovec Treatment for SMA.
Kotaro Yazaki, Satoru Sakuma, Norikatsu Hikita, Rika Fujimaru, Takashi Hamazaki

Neurology· May 2022

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Identification of a dysfunctional splicing mutation in the SLC22A12/URAT1 gene causing renal hypouricaemia type 1: a report on two families.
Yusuke Kawamura, Yu Toyoda, Takuma Ohnishi, Ryutaro Hisatomi, Toshihide Higashino, Rika Fujimaru

Rheumatology (Oxford)· December 2020

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Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome.
Xiaoyuan Jia, Tomohiko Yamamura, Rasheed Gbadegesin, Michelle T McNulty, Kyuyong Song, Rika Fujimaru

Kidney Int· November 2020

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Glomerular galactose-deficient IgA1 expression analysis in pediatric patients with glomerular diseases.
Shinya Ishiko, Tomoko Horinouchi, Rika Fujimaru, Yuko Shima, Hiroshi Kaito

Sci Rep· August 2020

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A review of clinical characteristics and genetic backgrounds in Alport syndrome.
Kandai Nozu, Koichi Nakanishi, Yoshifusa Abe, Tomohiro Udagawa, Shinichi Okada, Rika Fujimaru

Clin Exp Nephrol· February 2019

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Clinical features in a series of 258 Japanese pediatric patients with thrombotic microangiopathy.
Akira Ashida, Hideki Matsumura, Toshihiro Sawai, Rika Fujimaru, Yuko Fujii

Clin Exp Nephrol· August 2018

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Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome.
Tomoko Horinouchi, Kandai Nozu, Tomohiko Yamamura, Shogo Minamikawa, Takashi Omori, Rika Fujimaru

J Am Soc Nephrol· August 2018

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Strong Association of the Locus with Childhood Steroid-Sensitive Nephrotic Syndrome in the Japanese Population.
Xiaoyuan Jia, Tomoko Horinouchi, Yuki Hitomi, Akemi Shono, Seik-Soon Khor, Rika Fujimaru

J Am Soc Nephrol· August 2018

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Functional splicing analysis in an infantile case of atypical hemolytic uremic syndrome caused by digenic mutations in C3 and MCP genes.
Tomohiko Yamamura, Kandai Nozu, Hiroaki Ueda, Rika Fujimaru, Ryutaro Hisatomi

J Hum Genet· June 2018

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An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis.
Tomohiko Yamamura, Kandai Nozu, Yuya Miyoshi, Keita Nakanishi, Junya Fujimura, Rika Fujimaru

BMC Nephrol· December 2017

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Clinical guides for atypical hemolytic uremic syndrome in Japan.
Hideki Kato, Masaomi Nangaku, Hiroshi Hataya, Toshihiro Sawai, Akira Ashida, Rika Fujimaru

Clin Exp Nephrol· August 2016

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Clinical guides for atypical hemolytic uremic syndrome in Japan.
Hideki Kato, Masaomi Nangaku, Hiroshi Hataya, Toshihiro Sawai, Akira Ashida, Rika Fujimaru

Pediatr Int· July 2016

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Focal form of congenital hyperinsulinism clearly detectable by contrast-enhanced computed tomography imaging.
Yukiko Hashimoto, Azumi Sakakibara, Rie Kawakita, Yuki Hosokawa, Rika Fujimaru

Int J Pediatr Endocrinol· September 2015

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Relapsing 6q24-related transient neonatal diabetes mellitus successfully treated with a dipeptidyl peptidase-4 inhibitor: a case report.
Tohru Yorifuji, Yukiko Hashimoto, Rie Kawakita, Yuki Hosokawa, Rika Fujimaru

Pediatr Diabetes· December 2014

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Diagnostic criteria for atypical hemolytic uremic syndrome proposed by the Joint Committee of the Japanese Society of Nephrology and the Japan Pediatric Society.
Toshihiro Sawai, Masaomi Nangaku, Akira Ashida, Rika Fujimaru, Hiroshi Hataya

Clin Exp Nephrol· February 2014

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Diagnostic criteria for atypical hemolytic uremic syndrome proposed by the Joint Committee of the Japanese Society of Nephrology and the Japan Pediatric Society.
Toshihiro Sawai, Masaomi Nangaku, Akira Ashida, Rika Fujimaru, Hiroshi Hataya

Pediatr Int· February 2014

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[Diagnostic criteria of atypical hemolytic uremic syndrome].
Shoji Kagami, Hirokazu Okada, Shinya Kaname, Waichi Sato, Masaomi Nangaku, Rika Fujimaru

Nihon Jinzo Gakkai Shi· August 2013

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Childhood pheochromocytoma in a survivor of central primitive neuroectodermal tumor.
Yoshiko Nakano, Rika Fujimaru, Keiichi Ishii, Hiroaki Sakamoto, Takeshi Inoue

Pediatr Int· August 2013

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Efficacy and safety of long-term, continuous subcutaneous octreotide infusion for patients with different subtypes of KATP-channel hyperinsulinism.
Tohru Yorifuji, Rie Kawakita, Yuki Hosokawa, Rika Fujimaru, Kousaku Matsubara

Clin Endocrinol (Oxf)· June 2013

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Analysis of genetic and predisposing factors in Japanese patients with atypical hemolytic uremic syndrome.
Xinping Fan, Yoko Yoshida, Shigenori Honda, Masanori Matsumoto, Yugo Sawada, Rika Fujimaru

Mol Immunol· June 2013

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Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation.
Tohru Yorifuji, Rie Kawakita, Yuki Hosokawa, Rika Fujimaru, Emi Yamaguchi

J Med Genet· October 2012

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Lasting 18F-DOPA PET uptake after clinical remission of the focal form of congenital hyperinsulinism.
Tohru Yorifuji, Yuki Hosokawa, Rika Fujimaru, Rie Kawakita, Hiraku Doi

Horm Res Paediatr· February 2012

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Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus.
Tohru Yorifuji, Rika Fujimaru, Yuki Hosokawa, Nobuyoshi Tamagawa, Momoko Shiozaki

Pediatr Diabetes· February 2012

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