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Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.
Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Maruyama S, Noguchi A, Awaya T, Ishige M, Ishige N, Musha I, Ajihara S, Ohtake A, Naito E, Hamada Y, Kono T, Asada T, Sasai H, Fukao T, Fujiki R, Ohara O, Bo R, Yamada K, Kobayashi H, Hasegawa Y, Yamaguchi S, Takayanagi M, Hata I, Shigematsu Y, Kobayashi M. Tajima G, et al. Among authors: bo r. Mol Genet Metab. 2017 Nov;122(3):67-75. doi: 10.1016/j.ymgme.2017.07.011. Epub 2017 Jul 31. Mol Genet Metab. 2017. PMID: 28801073
Renal insufficiency mimicking glutaric acidemia type 1 on newborn screening.
Matsumoto M, Awano H, Bo R, Nagai M, Tomioka K, Nishiyama M, Ninchouji T, Nagase H, Yagi M, Morioka I, Hasegawa Y, Takeshima Y, Iijima K. Matsumoto M, et al. Among authors: bo r. Pediatr Int. 2018 Jan;60(1):67-69. doi: 10.1111/ped.13438. Epub 2017 Dec 14. Pediatr Int. 2018. PMID: 29059480
Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening.
Bo R, Musha I, Yamada K, Kobayashi H, Hasegawa Y, Awano H, Arao M, Kikuchi T, Taketani T, Ohtake A, Yamaguchi S, Iijima K. Bo R, et al. Mol Genet Metab Rep. 2020 May 27;24:100611. doi: 10.1016/j.ymgmr.2020.100611. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32489884 Free PMC article.
PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan.
Noguchi Y, Bo R, Nishio H, Matsumoto H, Matsui K, Yano Y, Sugawara M, Ueda G, Wijaya YOS, Niba ETE, Shinohara M, Bouike Y, Takeuchi A, Okamoto K, Saito T, Shimomura H, Lee T, Takeshima Y, Iijima K, Nozu K, Awano H. Noguchi Y, et al. Among authors: bo r. Genes (Basel). 2022 Nov 14;13(11):2110. doi: 10.3390/genes13112110. Genes (Basel). 2022. PMID: 36421785 Free PMC article.
Preliminary Effectiveness and Safety of High Frequency Oscillation in Addition to Mechanical Insufflation and Exsufflation for Intratracheal Mucus Removal in Patients With Neuromuscular Disease: Protocol for a Prospective Study.
Awano H, Nagai M, Bo R, Murao M, Ishida Y, Tanaka T, Tomioka K, Nishiyama M, Nagase H, Iijima K. Awano H, et al. Among authors: bo r. JMIR Res Protoc. 2019 Jun 27;8(6):e12102. doi: 10.2196/12102. JMIR Res Protoc. 2019. PMID: 31250831 Free PMC article.
282 results