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Adult-onset Still's disease during pregnancy that delivered a neonate with haemophagocytic lymphohistiocytosis and severe liver failure requiring liver transplantation: A case report and literature review.
Watanabe E, Sugiyama Y, Sato H, Imanishi T, Fukuda A, Takagi K, Asano T, Migita K, Nanki T, Kotake S. Watanabe E, et al. Among authors: sugiyama y. Mod Rheumatol Case Rep. 2022 Jun 24;6(2):260-265. doi: 10.1093/mrcr/rxab035. Mod Rheumatol Case Rep. 2022. PMID: 34904166 Review.
Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients.
Imai-Okazaki A, Matsunaga A, Yatsuka Y, Nitta KR, Kishita Y, Sugiura A, Sugiyama Y, Fushimi T, Shimura M, Ichimoto K, Tajika M, Ogawa-Tominaga M, Ebihara T, Matsuhashi T, Tsuruoka T, Kohda M, Hirata T, Harashima H, Nojiri S, Takeda A, Nakaya A, Kogaki S, Sakata Y, Ohtake A, Murayama K, Okazaki Y. Imai-Okazaki A, et al. Among authors: sugiyama y. Int J Cardiol. 2021 Oct 15;341:48-55. doi: 10.1016/j.ijcard.2021.06.042. Epub 2021 Jul 21. Int J Cardiol. 2021. PMID: 34298071 Free article.
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation.
Shimura M, Kuranobu N, Ogawa-Tominaga M, Akiyama N, Sugiyama Y, Ebihara T, Fushimi T, Ichimoto K, Matsunaga A, Tsuruoka T, Kishita Y, Umetsu S, Inui A, Fujisawa T, Tanikawa K, Ito R, Fukuda A, Murakami J, Kaji S, Kasahara M, Shiraki K, Ohtake A, Okazaki Y, Murayama K. Shimura M, et al. Among authors: sugiyama y. Orphanet J Rare Dis. 2020 Jul 24;15(1):169. doi: 10.1186/s13023-020-01441-5. Orphanet J Rare Dis. 2020. PMID: 32703289 Free PMC article.
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis.
Ebihara T, Nagatomo T, Sugiyama Y, Tsuruoka T, Osone Y, Shimura M, Tajika M, Matsuhashi T, Ichimoto K, Matsunaga A, Akiyama N, Ogawa-Tominaga M, Yatsuka Y, Nitta KR, Kishita Y, Fushimi T, Imai-Okazaki A, Ohtake A, Okazaki Y, Murayama K. Ebihara T, et al. Among authors: sugiyama y. Arch Dis Child Fetal Neonatal Ed. 2022 May;107(3):329-334. doi: 10.1136/archdischild-2021-321633. Epub 2021 Oct 7. Arch Dis Child Fetal Neonatal Ed. 2022. PMID: 34625524 Free PMC article.
Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A.
Shimura M, Onuki T, Sugiyama Y, Matsuhashi T, Ebihara T, Fushimi T, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Nitta KR, Imai-Okazaki A, Yatsuka Y, Kishita Y, Ohtake A, Okazaki Y, Murayama K. Shimura M, et al. Among authors: sugiyama y. Mitochondrion. 2022 Mar;63:1-8. doi: 10.1016/j.mito.2021.12.005. Epub 2021 Dec 18. Mitochondrion. 2022. PMID: 34933128 Free article.
Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder.
Ittiwut C, Ittiwut R, Kuptanon C, Matsuhashi T, Shimura M, Sugiyama Y, Onuki T, Ohtake A, Murayama K, Vatanavicharn N, Dejputtawat W, Tantisirivit N, Kor-Anantakul P, Kamolvisit W, Suphapeetiporn K, Shotelersuk V. Ittiwut C, et al. Among authors: sugiyama y. Sci Rep. 2023 Dec 12;13(1):22005. doi: 10.1038/s41598-023-49161-7. Sci Rep. 2023. PMID: 38086984 Free PMC article.
Novel ITPA variants identified by whole genome sequencing and RNA sequencing.
Omichi N, Kishita Y, Nakama M, Sasai H, Terazawa A, Kobayashi E, Fushimi T, Sugiyama Y, Ichimoto K, Nitta KR, Yatsuka Y, Ohtake A, Murayama K, Okazaki Y. Omichi N, et al. Among authors: sugiyama y. J Hum Genet. 2023 Sep;68(9):649-652. doi: 10.1038/s10038-023-01156-y. Epub 2023 May 29. J Hum Genet. 2023. PMID: 37246162
2,656 results