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Takuya Fushimi
Observed name:
Fushimi, Takuya
Institution:
Chiba Children's Hospital
Observed institutions:
Chiba University Hospital,
Chiba Children's Hospital
ORCID:
0000-0002-6346-4975
Observed ORCID:
0000-0002-6346-4975
OpenAlex ID:
A5022411794
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies
2016
·
Masakazu Kohda
, Yoshimi Tokuzawa
, et al.
·
PLoS Genetics
·
312
PDF
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients
2017
·
Erika Ogawa
, Masaru Shimura
, et al.
·
Journal of Inherited Metabolic Disease
·
104
PDF
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis
2020
·
Erika Ogawa
, Takuya Fushimi
, et al.
·
Journal of Inherited Metabolic Disease
·
59
PDF
Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome
2019
·
Nurun Nahar Borna
, Yoshihito Kishita
, et al.
·
Neurogenetics
·
58
PDF
Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background
2019
·
Atsuko Imai-Okazaki
, Yoshihito Kishita
, et al.
·
International Journal of Cardiology
·
55
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation
2020
·
Masaru Shimura
, Naomi Kuranobu
, et al.
·
Orphanet Journal of Rare Diseases
·
51
PDF
Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases
2019
·
Masaru Shimura
, Naoko Nozawa
, et al.
·
Scientific Reports
·
37
PDF
Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients
2021
·
Atsuko Imai-Okazaki
, Ayako Matsunaga
, et al.
·
International Journal of Cardiology
·
31
PDF
Valine metabolites analysis in ECHS1 deficiency
2021
·
Mari Kuwajima
, Karin Kojima
, et al.
·
Molecular Genetics and Metabolism Reports
·
27
PDF
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis
2021
·
Tomohiro Ebihara
, Taro Nagatomo
, et al.
·
Archives of Disease in Childhood Fetal & Neonatal
·
22
PDF
NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness
2020
·
Nurun Nahar Borna
, Yoshihito Kishita
, et al.
·
Brain
·
18
PDF
A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia
2022
·
Yohei Sugiyama
, Taijiro Watanabe
, et al.
·
Orphanet Journal of Rare Diseases
·
17
PDF
A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome
2021
·
Yoshihito Kishita
, Kaori Ishikawa
, et al.
·
Scientific Reports
·
16
PDF
Therapeutic effect of N-carbamylglutamate in CPS1 deficiency
2020
·
Yohei Sugiyama
, Masaru Shimura
, et al.
·
Molecular Genetics and Metabolism Reports
·
16
PDF
Mitochondrial complex deficiency by novel compound heterozygous TMEM 70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report
2019
·
Keiichi Hirono
, Fukiko Ichida
, et al.
·
Clinical Case Reports
·
16
PDF
Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency
2020
·
Tomonori Suyama
, Masaru Shimura
, et al.
·
Molecular Genetics and Metabolism Reports
·
15
PDF
Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy
2024
·
Kokoro Ozaki
, Yukiko Yatsuka
, et al.
·
npj Genomic Medicine
·
11
PDF
Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A
2021
·
Masaru Shimura
, Takanori Onuki
, et al.
·
Mitochondrion
·
10
PDF
Strategic validation of variants of uncertain significance in ECHS1 genetic testing
2023
·
Yoshihito Kishita
, Ayumu Sugiura
, et al.
·
Journal of Medical Genetics
·
9
PDF
Genome sequencing and RNA‐seq analyses of mitochondrial complex I deficiency revealed Alu insertion‐mediated deletion in NDUFV2
2021
·
Yoshihito Kishita
, Masaru Shimura
, et al.
·
Human Mutation
·
8
PDF
Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology
2020
·
Keiko Ichimoto
, Tomoo Fujisawa
, et al.
·
Molecular Genetics and Metabolism Reports
·
7
PDF
Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion
2022
·
Tomohiro Ebihara
, Taro Nagatomo
, et al.
·
Molecular Genetics and Metabolism Reports
·
6
PDF
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan
2021
·
Nana Akiyama
, Masaru Shimura
, et al.
·
Scientific Reports
·
6
PDF
Novel ITPA variants identified by whole genome sequencing and RNA sequencing
2023
·
Nanako Omichi
, Yoshihito Kishita
, et al.
·
Journal of Human Genetics
·
5
Carbamoyl phosphate synthetase 1 deficiency manifested in an adult treated with prednisone for polymyositis, and cured by live-donor liver transplantation
2025
·
Kazuhiro Yokota
, Akira Ohtake
, et al.
·
Molecular Genetics and Metabolism Reports
·
2
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Works count:
38
Citation count:
925
H-index:
15
I10-index:
18
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