Hiromi Nyuzuki - Search Results

Year	Number of Results
2011	1
2016	2
2017	3
2018	2
2019	2
2020	5
2021	4
2022	2
2023	4
2024	5

1

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

2

Hypocarnitinemia in twins after maternal pivalate-conjugated antibiotic therapy.

Fuse T, Aizawa Y, Nyuzuki H, Sawano K, Nagasaki K, Saitoh A. Fuse T, et al. Among authors: nyuzuki h. Pediatr Int. 2024 Jan-Dec;66(1):e15750. doi: 10.1111/ped.15750. Pediatr Int. 2024. PMID: 38409865 No abstract available.

3

Peripheral precocious puberty in a girl with an intracranial hCG-producing tumor: case report and literature review.

Shibata N, Nyuzuki H, Sasaki S, Ogawa Y, Okada M, Nagasaki K. Shibata N, et al. Among authors: nyuzuki h. Endocr J. 2021 Dec 28;68(12):1463-1467. doi: 10.1507/endocrj.EJ21-0117. Epub 2021 Jul 17. Endocr J. 2021. PMID: 34275973 Free article. Review.

4

Biallelic GALM pathogenic variants cause a novel type of galactosemia.

Wada Y, Kikuchi A, Arai-Ichinoi N, Sakamoto O, Takezawa Y, Iwasawa S, Niihori T, Nyuzuki H, Nakajima Y, Ogawa E, Ishige M, Hirai H, Sasai H, Fujiki R, Shirota M, Funayama R, Yamamoto M, Ito T, Ohara O, Nakayama K, Aoki Y, Koshiba S, Fukao T, Kure S. Wada Y, et al. Among authors: nyuzuki h. Genet Med. 2019 Jun;21(6):1286-1294. doi: 10.1038/s41436-018-0340-x. Epub 2018 Oct 19. Genet Med. 2019. PMID: 30451973 Free article.

5

Timing of hyponatremia development in patients with salt-wasting-type 21-hydroxylase deficiency.

Shima R, Sawano K, Shibata N, Nyuzuki H, Sasaki S, Sato H, Ogawa Y, Abe Y, Nagasaki K, Saitoh A. Shima R, et al. Among authors: nyuzuki h. Clin Pediatr Endocrinol. 2020;29(3):105-110. doi: 10.1297/cpe.29.105. Epub 2020 Jul 11. Clin Pediatr Endocrinol. 2020. PMID: 32694886 Free PMC article.

6

Criteria for radiologic diagnosis of hypochondroplasia in neonates.

Saito T, Nagasaki K, Nishimura G, Wada M, Nyuzuki H, Takagi M, Hasegawa T, Amano N, Murotsuki J, Sawai H, Yamada T, Sato S, Saitoh A. Saito T, et al. Among authors: nyuzuki h. Pediatr Radiol. 2016 Apr;46(4):513-8. doi: 10.1007/s00247-015-3518-2. Epub 2016 Feb 11. Pediatr Radiol. 2016. PMID: 26867606

7

Gastric metastasis from small bowel adenocarcinoma in a Lynch syndrome patient.

Matsumoto A, Shimada Y, Kondo S, Mizuno KI, Nakano M, Yamai D, Nakano M, Nyuzuki H, Umezu H, Wakai T. Matsumoto A, et al. Among authors: nyuzuki h. Clin J Gastroenterol. 2022 Jun;15(3):575-581. doi: 10.1007/s12328-022-01625-5. Epub 2022 Mar 28. Clin J Gastroenterol. 2022. PMID: 35347646

8

Ski3/TTC37 deficiency associated with trichohepatoenteric syndrome causes mitochondrial dysfunction in Drosophila.

Ohnuma K, Kishita Y, Nyuzuki H, Kohda M, Ohtsu Y, Takeo S, Asano T, Sato-Miyata Y, Ohtake A, Murayama K, Okazaki Y, Aigaki T. Ohnuma K, et al. Among authors: nyuzuki h. FEBS Lett. 2020 Apr 15. doi: 10.1002/1873-3468.13792. Online ahead of print. FEBS Lett. 2020. PMID: 32294252 Free article.

9

A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant.

Nyuzuki H, Ozawa J, Nagasaki K, Nishio Y, Ogi T, Tohyama J, Ikeuchi T. Nyuzuki H, et al. Hum Genome Var. 2024 Feb 22;11(1):8. doi: 10.1038/s41439-024-00265-0. Hum Genome Var. 2024. PMID: 38383446 Free PMC article.

10

A case of adolescent trichorhinophalangeal syndrome undergoing pelvic osteotomy for bilateral acetabular dysplasia.

Sawano K, Nyuzuki H, Nagasaki K, Suzuki H, Suda K, Miyasaka D, Imai N, Saitoh A. Sawano K, et al. Among authors: nyuzuki h. J Orthop Sci. 2023 Nov;28(6):1501-1504. doi: 10.1016/j.jos.2021.07.021. Epub 2021 Sep 6. J Orthop Sci. 2023. PMID: 34503898 No abstract available.

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