Tomoko Tsuruoka

发表

Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases

Y. Okazaki, M. Nakajima, Kiwamu Takahashi, 2019, Scientific Reports.

Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan

Y. Okazaki, Y. Kishita, A. Ohtake, 2021, Scientific reports.

Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion

K. Nitta, Y. Kishita, A. Ohtake, 2022, Molecular genetics and metabolism reports.

Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G>A

K. Nitta, Y. Kishita, A. Ohtake, 2021, Mitochondrion.

Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients.

K. Nitta, Y. Sakata, A. Takeda, 2021, International journal of cardiology.

Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation

Y. Okazaki, Y. Kishita, A. Ohtake, 2020, Orphanet Journal of Rare Diseases.

Evaluation of endogenous nitric oxide synthesis in congenital urea cycle enzyme defects.

H. Tsukahara, Kunihiko Kobayashi, T. Miida, 2009, Metabolism: clinical and experimental.

Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: Focusing on mitochondrial DNA depletion syndrome

Y. Okazaki, A. Compton, A. Ohtake, 2014, Pediatrics international : official journal of the Japan Pediatric Society.

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

Y. Okazaki, T. Fuchigami, Y. Kishita, 2017, Journal of Inherited Metabolic Disease.

Therapeutic effect of N-carbamylglutamate in CPS1 deficiency

K. Murayama, Keita Isozaki, Kayo Mizutani, 2020, Molecular genetics and metabolism reports.

Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis

Y. Okazaki, T. Fuchigami, Y. Kishita, 2020, Journal of inherited metabolic disease.

Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case report

A. Imai-Okazaki, K. Murayama, Jun Kido, 2021, Brain and Development.

A case of 1-month-old female infant delaying peritoneal dialysis introduction by low-potassium anti-allergic formula treated with sodium polystyrene sulfonate

T. Iida, Tomoko Tsuruoka, T. Nishimura, 2022, CEN Case Reports.

Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases

Y. Okazaki, M. Nakajima, Kiwamu Takahashi, 2019, Scientific Reports.

Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency

Simone Tregoning, A. Ohtake, K. Murayama, 2009, European Journal of Pediatrics.

A Japanese single-center experience of the efficacy and safety of enzyme replacement therapy in childhood-onset hypophosphatasia

T. Akiyama, K. Murayama, T. Matsuhashi, 2021 .

A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia

T. Akiyama, K. Murayama, T. Matsuhashi, 2022, Orphanet Journal of Rare Diseases.

Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis

K. Nitta, Y. Kishita, A. Ohtake, 2021, Archives of Disease in Childhood.

Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan

Y. Okazaki, Y. Kishita, A. Ohtake, 2020, Scientific Reports.