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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: ihara 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
Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood.
Matsumoto M, Oyake M, Itonaga T, Maeda M, Suenobu S, Sato D, Sasahara Y, Mishima H, Yoshiura KI, Ihara K. Matsumoto M, et al. Among authors: ihara k. Eur J Med Genet. 2024 Apr 15;69:104939. doi: 10.1016/j.ejmg.2024.104939. Online ahead of print. Eur J Med Genet. 2024. PMID: 38614309 Free article.
Comparison of physician- and self-assessed pubertal onset in Japanese children.
Saito-Abe M, Nishizato M, Yamamoto-Hanada K, Yang L, Fukami M, Ito Y, Ihara K, Iwabuchi A, Okamoto S, Naiki Y, Ohya Y, Horikawa R. Saito-Abe M, et al. Among authors: ihara k. Front Pediatr. 2023 Mar 21;11:950541. doi: 10.3389/fped.2023.950541. eCollection 2023. Front Pediatr. 2023. PMID: 37025288 Free PMC article.
Neuropathological hallmarks in autopsied cases with mitochondrial diseases caused by the mitochondrial 3243A>G mutation.
Miyahara H, Tamai C, Inoue M, Sekiguchi K, Tahara D, Tahara N, Takeda K, Arafuka S, Moriyoshi H, Koizumi R, Akagi A, Riku Y, Sone J, Yoshida M, Ihara K, Iwasaki Y. Miyahara H, et al. Among authors: ihara k. Brain Pathol. 2023 Nov;33(6):e13199. doi: 10.1111/bpa.13199. Epub 2023 Aug 3. Brain Pathol. 2023. PMID: 37534760 Free PMC article.
881 results