Murayama K - Search Results

1

High-risk screening for Fabry disease in hemodialysis patients in Chiba Prefecture, Japan.

Imasawa T, Murayama K, Sawada T, Hirose M, Takayanagi M, Nakamura K. Imasawa T, et al. Among authors: murayama k. Clin Exp Nephrol. 2023 Mar;27(3):288-294. doi: 10.1007/s10157-022-02295-w. Epub 2022 Dec 27. Clin Exp Nephrol. 2023. PMID: 36574104

2

Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report.

Naganuma T, Imasawa T, Nukui I, Wakasugi M, Kitamura H, Yatsuka Y, Kishita Y, Okazaki Y, Murayama K, Jinguji Y. Naganuma T, et al. Among authors: murayama k. Mol Genet Metab Rep. 2023 Mar 9;35:100963. doi: 10.1016/j.ymgmr.2023.100963. eCollection 2023 Jun. Mol Genet Metab Rep. 2023. PMID: 36941957 Free PMC article.

3

Changes in histopathology and heteroplasmy rates over 8 years and effectiveness of taurine supplementation in a patient with mitochondrial nephropathy caused by MT-TL1 mutation: A case report.

Imasawa T, Kitamura H, Kawaguchi T, Yatsuka Y, Okazaki Y, Murayama K. Imasawa T, et al. Among authors: murayama k. Heliyon. 2023 Mar 30;9(4):e14923. doi: 10.1016/j.heliyon.2023.e14923. eCollection 2023 Apr. Heliyon. 2023. PMID: 37082626 Free PMC article.

4

Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening.

Kido J, Häberle J, Tanaka T, Nagao M, Wada Y, Numakura C, Bo R, Nyuzuki H, Dateki S, Maruyama S, Murayama K, Yoshida S, Nakamura K. Kido J, et al. Among authors: murayama k. J Inherit Metab Dis. 2023 Sep 8. doi: 10.1002/jimd.12673. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 37681292

5

Acute Encephalopathy Caused by Inherited Metabolic Diseases.

Sugiyama Y, Murayama K. Sugiyama Y, et al. Among authors: murayama k. J Clin Med. 2023 May 31;12(11):3797. doi: 10.3390/jcm12113797. J Clin Med. 2023. PMID: 37297992 Free PMC article. Review.

6

Total and reduced/oxidized forms of coenzyme Q₁₀ in fibroblasts of patients with mitochondrial disease.

Watanabe C, Osaka H, Watanabe M, Miyauchi A, Jimbo EF, Tokuyama T, Uosaki H, Kishita Y, Okazaki Y, Onuki T, Ebihara T, Aizawa K, Murayama K, Ohtake A, Yamagata T. Watanabe C, et al. Among authors: murayama k. Mol Genet Metab Rep. 2023 Jan 3;34:100951. doi: 10.1016/j.ymgmr.2022.100951. eCollection 2023 Mar. Mol Genet Metab Rep. 2023. PMID: 36632326 Free PMC article.

7

Dried blood spot-based newborn screening for bile acid synthesis disorders, Zellweger spectrum disorder, and Niemann-Pick type C1 by detection of bile acid metabolites.

Muto Y, Suzuki M, Takei H, Saito N, Mori J, Sugimoto S, Imagawa K, Nambu R, Oguri S, Itonaga T, Ihara K, Hayashi H, Murayama K, Kakiyama G, Nittono H, Shimizu T. Muto Y, et al. Among authors: murayama k. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107703. doi: 10.1016/j.ymgme.2023.107703. Epub 2023 Sep 28. Mol Genet Metab. 2023. PMID: 37802748

8

Living donor liver transplantation for myocerebrohepatopathy spectrum due to POLG mutations.

Kadohisa M, Okamoto T, Yamamoto M, Uebayashi EY, Sonoda M, Ogawa E, Yokoyama A, Kawasaki H, Hiejima E, Ito S, Togawa T, Imagawa K, Murayama K, Okajima H, Hatano E. Kadohisa M, et al. Among authors: murayama k. Pediatr Transplant. 2024 Feb;28(1):e14659. doi: 10.1111/petr.14659. Epub 2023 Nov 27. Pediatr Transplant. 2024. PMID: 38012111

9

Clinical characteristics of SARS-CoV-2-associated encephalopathy in children: Nationwide epidemiological study.

Kasai M, Sakuma H, Abe Y, Kuki I, Maegaki Y, Murayama K, Murofushi Y, Nagase H, Nishiyama M, Okumura A, Sakai Y, Tada H, Mizuguchi M, Takanashi JI; Japanese Pediatric Neuro-COVID-19 Study Group. Kasai M, et al. Among authors: murayama k. J Neurol Sci. 2024 Feb 15;457:122867. doi: 10.1016/j.jns.2024.122867. Epub 2024 Jan 3. J Neurol Sci. 2024. PMID: 38199023 Free article.

10

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: murayama k. 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

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