Ryosuke Bo - Search Results

Year	Number of Results
2014	1
2015	4
2016	3
2017	6
2018	2
2019	2
2020	3
2021	1
2022	3
2023	5
2024	0

1

Frequent recurrence of pancreatitis in a patient with Leigh syndrome.

Nakashima K, Bo R, Awano H, Nishiyama M, Iijima K. Nakashima K, et al. Among authors: bo r. Pediatr Int. 2022 Jan;64(1):e15021. doi: 10.1111/ped.15021. Pediatr Int. 2022. PMID: 35278257 No abstract available.

2

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: bo r. J Inherit Metab Dis. 2023 Sep 8. doi: 10.1002/jimd.12673. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 37681292

3

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.

4

Real-Time PCR-Based Screening for Homozygous SMN2 Deletion Using Residual Dried Blood Spots.

Bouike Y, Sakima M, Taninishi Y, Matsutani T, Noguchi Y, Bo R, Awano H, Nishio H. Bouike Y, et al. Among authors: bo r. Genes (Basel). 2023 Nov 29;14(12):2159. doi: 10.3390/genes14122159. Genes (Basel). 2023. PMID: 38136980 Free PMC article.

5

Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan.

Sonehara S, Bo R, Nambu Y, Iketani K, Lee T, Shimomura H, Ueda M, Takeshima Y, Iijima K, Nozu K, Nishio H, Awano H. Sonehara S, et al. Among authors: bo r. Genes (Basel). 2023 Dec 14;14(12):2211. doi: 10.3390/genes14122211. Genes (Basel). 2023. PMID: 38137033 Free PMC article.

6

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

7

Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype.

Yamada K, Osawa Y, Kobayashi H, Bo R, Mushimoto Y, Hasegawa Y, Yamaguchi S, Taketani T. Yamada K, et al. Among authors: bo r. Mol Genet Metab Rep. 2022 Nov 14;33:100940. doi: 10.1016/j.ymgmr.2022.100940. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36406819 Free PMC article.

8

Electrocardiographic R wave amplitude in V6 lead as a predictive marker of cardiac dysfunction in Duchenne muscular dystrophy.

Yamamoto T, Nambu Y, Bo R, Morichi S, Yanagiya M, Matsuo M, Awano H. Yamamoto T, et al. Among authors: bo r. J Cardiol. 2023 Nov;82(5):363-370. doi: 10.1016/j.jjcc.2023.07.003. Epub 2023 Jul 20. J Cardiol. 2023. PMID: 37481234 Free article.

9

Elevation of pivaloylcarnitine by sivelestat sodium in two children.

Yamada K, Kobayashi H, Bo R, Takahashi T, Hasegawa Y, Nakamura M, Ishige N, Yamaguchi S. Yamada K, et al. Among authors: bo r. Mol Genet Metab. 2015 Nov;116(3):192-4. doi: 10.1016/j.ymgme.2015.09.009. Epub 2015 Sep 26. Mol Genet Metab. 2015. PMID: 26428892

10

The perioperative transition of serum biomarkers of a 1.5-year-old boy with very-long-chain acyl-CoA dehydrogenase deficiency.

Bo R, Awano H, Yamada K, Ooi M, Okata Y, Bitoh Y, Mizobuchi S, Iijima K. Bo R, et al. Mol Genet Metab Rep. 2021 Apr 19;27:100760. doi: 10.1016/j.ymgmr.2021.100760. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33996489 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

24 results

Results by year

Search Page

Filters

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

Search Results

24 results

Results by year