Publications by authors named "Takuya Fushimi"

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Carbamoyl phosphate synthetase 1 deficiency manifested in an adult treated with prednisone for polymyositis, and cured by live-donor liver transplantation.
Kazuhiro Yokota, Akira Ohtake, Taro Yamazaki, Takuma Tsuzuki-Wada, Megumi Saito-Tsuruoka, Takuya Fushimi

Mol Genet Metab Rep· June 2025

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Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis.
Kohta Nakamura, Yukiko Yatsuka, Sachie Naito, Akira Hasegawa, Takeya Kasukawa, Takuya Fushimi

Mol Genet Genomic Med· January 2025

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Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy.
Kokoro Ozaki, Yukiko Yatsuka, Yoshinobu Oyazato, Atsushi Nishiyama, Kazuhiro R Nitta, Takuya Fushimi

NPJ Genom Med· October 2024

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Strategic validation of variants of uncertain significance in genetic testing.
Yoshihito Kishita, Ayumu Sugiura, Takanori Onuki, Tomohiro Ebihara, Tetsuro Matsuhashi, Takuya Fushimi

J Med Genet· October 2023

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Novel ITPA variants identified by whole genome sequencing and RNA sequencing.
Nanako Omichi, Yoshihito Kishita, Mina Nakama, Hideo Sasai, Atsushi Terazawa, Takuya Fushimi

J Hum Genet· September 2023

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Partial Efficacy of Vigabatrin in an Infant With West Syndrome Due to Pyruvate Dehydrogenase Complex Deficiency: A Case Report.
Mitsuo Motobayashi, Shun Munakata, Noritaka Kitazawa, Takuya Fushimi, Kei Murayama

Pediatr Neurol· January 2023

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Severe spinal cord hypoplasia due to a novel compound heterozygous deletion.
Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, Tomoko Tsuruoka, Yoshiteru Osone, Takuya Fushimi

Mol Genet Metab Rep· December 2022

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Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis.
Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, Tomoko Tsuruoka, Yoshiteru Osone, Takuya Fushimi

Arch Dis Child Fetal Neonatal Ed· May 2022

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Macroscopic Characteristics of the Native Liver in Children With MPV17-Related Mitochondrial DNA Depletion Syndrome: An Indication for Performing Liver Transplantation?
Mureo Kasahara, Seisuke Sakamoto, Akinari Fukuda, Reiko Horikawa, Reiko Ito, Takuya Fushimi

Liver Transpl· March 2022

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Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A.
Masaru Shimura, Takanori Onuki, Yohei Sugiyama, Tetsuro Matsuhashi, Tomohiro Ebihara, Takuya Fushimi

Mitochondrion· March 2022

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A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia.
Yohei Sugiyama, Taijiro Watanabe, Makiko Tajika, Tetsuro Matsuhashi, Masaru Shimura, Takuya Fushimi

Orphanet J Rare Dis· February 2022

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Valine metabolites analysis in ECHS1 deficiency.
Mari Kuwajima, Karin Kojima, Hitoshi Osaka, Yusuke Hamada, Eriko Jimbo, Takuya Fushimi

Mol Genet Metab Rep· December 2021

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Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2.
Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, Takuya Fushimi, Kazuhiro R Nitta

Hum Mutat· November 2021

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Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.
Nana Akiyama, Masaru Shimura, Taro Yamazaki, Hiroko Harashima, Takuya Fushimi

Sci Rep· November 2021

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Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients.
Atsuko Imai-Okazaki, Ayako Matsunaga, Yukiko Yatsuka, Kazuhiro R Nitta, Yoshihito Kishita, Takuya Fushimi

Int J Cardiol· October 2021

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A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome.
Yoshihito Kishita, Kaori Ishikawa, Kazuto Nakada, Jun-Ichi Hayashi, Takuya Fushimi

Sci Rep· May 2021

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Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.
Nana Akiyama, Masaru Shimura, Taro Yamazaki, Hiroko Harashima, Takuya Fushimi

Sci Rep· February 2021

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Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology.
Keiko Ichimoto, Tomoo Fujisawa, Masaru Shimura, Takuya Fushimi, Makiko Tajika

Mol Genet Metab Rep· September 2020

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Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency.
Tomonori Suyama, Masaru Shimura, Takuya Fushimi, Naomi Kuranobu, Keiko Ichimoto

Mol Genet Metab Rep· September 2020

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Therapeutic effect of -carbamylglutamate in CPS1 deficiency.
Yohei Sugiyama, Masaru Shimura, Minako Ogawa-Tominaga, Tomohiro Ebihara, Yoshina Kinouchi, Takuya Fushimi

Mol Genet Metab Rep· September 2020

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Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.
Erika Ogawa, Takuya Fushimi, Minako Ogawa-Tominaga, Masaru Shimura, Makiko Tajika

J Inherit Metab Dis· July 2020

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NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness.
Nurun Nahar Borna, Yoshihito Kishita, Jiro Abe, Takuro Furukawa, Minako Ogawa-Tominaga, Takuya Fushimi

Brain· July 2020

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Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation.
Masaru Shimura, Naomi Kuranobu, Minako Ogawa-Tominaga, Nana Akiyama, Yohei Sugiyama, Takuya Fushimi

Orphanet J Rare Dis· July 2020

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Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases.
Masaru Shimura, Naoko Nozawa, Minako Ogawa-Tominaga, Takuya Fushimi, Makiko Tajika

Sci Rep· July 2019

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Mitochondrial complex deficiency by novel compound heterozygous variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report.
Keiichi Hirono, Fukiko Ichida, Natsuhito Nishio, Minako Ogawa-Tominaga, Takuya Fushimi

Clin Case Rep· March 2019

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