Ryoji Fujiki

Name	Ryoji Fujiki
URL
Affiliation	Chiba University
Section	Hospital
Job title	特任助教
Degree	Doctor(The University of Tokyo)
Research funding number	40534516
J-Global ID	202101013027886114

Papers

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Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population.

Akiko Maeda Akiko Yoshida Kanako Kawai Yuki Arai Ryutaro Akiba Akira Inaba Seiji Takagi Ryoji Fujiki Yasuhiko Hirami Yasuo Kurimoto Osamu Ohara Masayo Takahashi

Japanese journal of ophthalmology 62(4) 451-457 Jul 2018

PURPOSE: Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy caused by different genetic variants. More than 60 causative genes have been identified to date. The establishment of cost-effective molecular diagnostic tes...

Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation.

Tomoko Lee Maiko Misaki Hideki Shimomura Yasuhiko Tanaka Satoru Yoshida Kei Murayama Kimitoshi Nakamura Ryoji Fujiki Osamu Ohara Hideo Sasai Toshiyuki Fukao Yasuhiro Takeshima

Human genome variation 5 22-22 2018

An 18-month-old boy was diagnosed with late-onset ornithine transcarbamylase deficiency. Genetic analysis revealed a mosaic frameshift mutation (p.Q279fs) in the OTC gene. Despite the presence of a null mutation, he exhibited a milder phenotype, s...

Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.

Hideo Sasai Yuka Aoyama Hiroki Otsuka Elsayed Abdelkreem Yasuhiro Naiki Mitsuru Kubota Yuji Sekine Masatsune Itoh Mina Nakama Hidenori Ohnishi Ryoji Fujiki Osamu Ohara Toshiyuki Fukao

Journal of inherited metabolic disease 40(6) 845-852 Nov 2017

Succinyl-CoA:3-oxoacid CoA transferase (SCOT, gene symbol OXCT1) deficiency is an autosomal recessive disorder in ketone body utilization that results in severe recurrent ketoacidotic episodes in infancy, including neonatal periods. More than 30 p...

Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.

Go Tajima Keiichi Hara Miyuki Tsumura Reiko Kagawa Satoshi Okada Nobuo Sakura Shinsuke Maruyama Atsuko Noguchi Tomonari Awaya Mika Ishige Nobuyuki Ishige Ikuma Musha Sayaka Ajihara Akira Ohtake Etsuo Naito Yusuke Hamada Tomotaka Kono Tomoko Asada Hideo Sasai Toshiyuki Fukao Ryoji Fujiki Osamu Ohara Ryosuke Bo Kenji Yamada Hironori Kobayashi Yuki Hasegawa Seiji Yamaguchi Masaki Takayanagi Ikue Hata Yosuke Shigematsu Masao Kobayashi

Molecular genetics and metabolism 122(3) 67-75 Nov 2017

BACKGROUND: Carnitine palmitoyltransferase (CPT) II deficiency is one of the most common forms of mitochondrial fatty acid oxidation disorder (FAOD). However, newborn screening (NBS) for this potentially fatal disease has not been established part...

A case of classical maple syrup urine disease that was successfully managed by living donor liver transplantation.

Chika Takano Mika Ishige Erika Ogawa Hiromi Usui Reiko Kagawa Go Tajima Ryoji Fujiki Toshiyuki Fukao Koichi Mizuta Tatsuo Fuchigami Shori Takahashi

Pediatric transplantation 21(5) Aug 2017

Classical MSUD is often fatal without appropriate medical interventions because of metabolic crisis. There are numerous reports suggesting the therapeutic potential of deceased donor liver transplantation for MSUD. However, the usefulness of LDLT ...