Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

1,135 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.
Yamada K, Aiba K, Kitaura Y, Kondo Y, Nomura N, Nakamura Y, Fukushi D, Murayama K, Shimomura Y, Pitt J, Yamaguchi S, Yokochi K, Wakamatsu N. Yamada K, et al. Among authors: murayama k. J Med Genet. 2015 Oct;52(10):691-8. doi: 10.1136/jmedgenet-2015-103231. Epub 2015 Aug 6. J Med Genet. 2015. PMID: 26251176
A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction.
Aiba K, Nakamura Y, Sugimoto M, Yatsuka Y, Okazaki Y, Murayama K, Ohtake A, Yokochi K, Saitoh S. Aiba K, et al. Among authors: murayama k. Eur J Med Genet. 2021 Aug;64(8):104251. doi: 10.1016/j.ejmg.2021.104251. Epub 2021 May 27. Eur J Med Genet. 2021. PMID: 34051360
Clinical and genetic features of lysinuric protein intolerance in Japan.
Noguchi A, Nakamura K, Murayama K, Yamamoto S, Komatsu H, Kizu R, Takayanagi M, Okuyama T, Endo F, Takasago Y, Shoji Y, Takahashi T. Noguchi A, et al. Among authors: murayama k. Pediatr Int. 2016 Oct;58(10):979-983. doi: 10.1111/ped.12946. Epub 2016 Jun 8. Pediatr Int. 2016. PMID: 26865117
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.
Ogawa E, Fushimi T, Ogawa-Tominaga M, Shimura M, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Ishige M, Fuchigami T, Yamazaki T, Kishita Y, Kohda M, Imai-Okazaki A, Okazaki Y, Morioka I, Ohtake A, Murayama K. Ogawa E, et al. Among authors: murayama k. J Inherit Metab Dis. 2020 Jul;43(4):819-826. doi: 10.1002/jimd.12218. Epub 2020 Feb 10. J Inherit Metab Dis. 2020. PMID: 31967322 Free PMC article.
Strategic validation of variants of uncertain significance in ECHS1 genetic testing.
Kishita Y, Sugiura A, Onuki T, Ebihara T, Matsuhashi T, Shimura M, Fushimi T, Ichino N, Nagatakidani Y, Nishihata H, Nitta KR, Yatsuka Y, Imai-Okazaki A, Wu Y, Osaka H, Ohtake A, Murayama K, Okazaki Y. Kishita Y, et al. Among authors: murayama k. J Med Genet. 2023 Oct;60(10):1006-1015. doi: 10.1136/jmg-2022-109027. Epub 2023 Apr 13. J Med Genet. 2023. PMID: 37055166
A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.
Kunii M, Doi H, Higashiyama Y, Kugimoto C, Ueda N, Hirata J, Tomita-Katsumoto A, Kashikura-Kojima M, Kubota S, Taniguchi M, Murayama K, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N, Tanaka F. Kunii M, et al. Among authors: murayama k. J Hum Genet. 2015 Apr;60(4):187-91. doi: 10.1038/jhg.2015.7. Epub 2015 Feb 5. J Hum Genet. 2015. PMID: 25652355 Review.
1,135 results