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Year Number of Results
2016 2
2020 3
2021 3
2022 5
2023 4
2024 0

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Page 1
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
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.
Therapeutic effect of N-carbamylglutamate in CPS1 deficiency.
Sugiyama Y, Shimura M, Ogawa-Tominaga M, Ebihara T, Kinouchi Y, Isozaki K, Matsuhashi T, Tajika M, Fushimi T, Ichimoto K, Matsunaga A, Ishida T, Mizutani K, Tsuruoka T, Murayama K. Sugiyama Y, et al. Mol Genet Metab Rep. 2020 Jul 8;24:100622. doi: 10.1016/j.ymgmr.2020.100622. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32670798 Free PMC 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.
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.
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.
Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion.
Ebihara T, Nagatomo T, Sugiyama Y, Tsuruoka T, Osone Y, Shimura M, Tajika M, Ichimoto K, Naruke Y, Akiyama N, Lim SC, Yatsuka Y, Nitta KR, Kishita Y, Fushimi T, Okazaki A, Ohtake A, Okazaki Y, Murayama K. Ebihara T, et al. Among authors: sugiyama y. Mol Genet Metab Rep. 2022 Aug 24;33:100912. doi: 10.1016/j.ymgmr.2022.100912. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36061954 Free PMC article.
15 results