Get started
Author

Tomoko Tsuruoka

Observed names: T Tsuruoka, Tsuruoka, Tomoko
ORCID: 0000-0002-1987-4133
Observed ORCID: 0000-0002-1987-4133
OpenAlex ID: A5048715590
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 · 105
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
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
Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency
2008 · Kei Murayama, Hironori Nagasaka, et al. · European Journal of Pediatrics · 33
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
Evaluation of endogenous nitric oxide synthesis in congenital urea cycle enzyme defects
2009 · Hironori Nagasaka, Hirokazu Tsukahara, et al. · Metabolism · 29
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
Molecular diagnosis of mitochondrial respiratory chain disorders in J apan: Focusing on mitochondrial DNA depletion syndrome
2013 · Taro Yamazaki, Kei Murayama, et al. · Pediatrics International · 20
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
Therapeutic effect of N-carbamylglutamate in CPS1 deficiency
2020 · Yohei Sugiyama, Masaru Shimura, et al. · Molecular Genetics and Metabolism Reports · 17
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
Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case report
2021 · Tomoko Kashiki, Jun Kido, et al. · Brain and Development · 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
[Sex and age distribution of patients with macroamylasemia found in the daily isoenzyme analysis].
1998 · E Yoshida, T Tsuruoka, et al. · PubMed · 5
Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis
2025 · Kohta Nakamura, Yukiko Yatsuka, et al. · Molecular Genetics & Genomic Medicine · 2
PDF
A case of 1-month-old female infant delaying peritoneal dialysis introduction by low-potassium anti-allergic formula treated with sodium polystyrene sulfonate
2022 · Takaya Iida, Tatsuya Nishimura, et al. · CEN Case Reports · 2
[Usefulness of 123I-BMIPP myocardial scintigraphy for evaluation of the left ventricular function in patients with chronic heart failure].
1996 · K Watanabe, M Sekiya, et al. · PubMed · 2
Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan
2021 · Nana Akiyama, Masaru Shimura, et al. · Scientific Reports · 1
PDF
Diagnoses and Molecular Bases of Mitochondrial Respiratory Chain Disorders in Japan
2009 · Akira Ohtake, K. Murayama, et al. · Molecular Genetics and Metabolism
Works count: 25
Citation count: 462
H-index: 11
I10-index: 12
Year
Topic
Type