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Ayako Matsunaga

Observed names: Matsunaga, Ayako, 松永綾子
ORCID: 0000-0003-3316-8400
Observed ORCID: 0000-0003-3316-8400
OpenAlex ID: A5000592050
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
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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
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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
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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
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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
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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
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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
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Therapeutic effect of N-carbamylglutamate in CPS1 deficiency
2020 · Yohei Sugiyama, Masaru Shimura, et al. · Molecular Genetics and Metabolism Reports · 16
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Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency
2020 · Tomonori Suyama, Masaru Shimura, et al. · Molecular Genetics and Metabolism Reports · 15
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Outcomes of liver transplantation for mitochondrial respiratory chain disorder in children
2021 · Hajime Uchida, Seisuke Sakamoto, et al. · Pediatric Transplantation · 13
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
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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
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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
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Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan
2024 · Yasuko Mikami-Saito, Yoichi Wada, et al. · Genetics in Medicine · 5
A Japanese patient with neonatal biotin-responsive basal ganglia disease
2022 · Mizuki Kobayashi, Yuichi Suzuki, et al. · Human Genome Variation · 5
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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?
2021 · Mureo Kasahara, Seisuke Sakamoto, et al. · Liver Transplantation · 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
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A phase III double-blind, placebo-controlled, randomized withdrawal trial of 5‑aminolevulinic acid hydrochloride with sodium ferrous citrate for efficacy and safety in patients diagnosed as Leigh syndrome
2026 · Akira Ohtake, Yuichi Abe, et al. · PLoS ONE
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An Adolescent Case of Ulcerative Colitis Complicated by Toxic Megacolon
2025 · Masaki Kato, Masaki Yamashita, et al. · Case Reports in Gastroenterology
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Inborn errors of metabolism that cause adult-onset hyperammonemia
2022 · Ayako Matsunaga · Journal of the Japanese Society of Intensive Care Medicine
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Additional file 3 of A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia
2022 · Sugiyama, Yohei, Watanabe, Taijiro, et al. · Figshare
Novel therapy for mitochondrial diseases: 5-ALA and SFC as an enzyme enhancement therapy
2019 · Masaru Shimura, Minako Ogawa‐Tominaga, et al. · 日本先天代謝異常学会雑誌
本邦におけるミトコンドリア呼吸鎖異常症の現状 酵素診断・遺伝子診断について
2015 · Masaru Shimura, Kei Murayama, et al. · 日本小児科学会雑誌
Pediatric Inflammatory Bowel Disease Presenting with Extraintestinal Manifestations: Two Case Reports
· Ayako Matsunaga · Institutional Repositories DataBase (IRDB)
Works count: 40
Citation count: 456
H-index: 11
I10-index: 12
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