Endo F - Search Results

1

Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.

Yorifuji T, Kawai M, Muroi J, Mamada M, Kurokawa K, Shigematsu Y, Hirano S, Sakura N, Yoshida I, Kuhara T, Endo F, Mitsubuchi H, Nakahata T. Yorifuji T, et al. Among authors: endo f. Hum Genet. 2002 Aug;111(2):161-5. doi: 10.1007/s00439-002-0761-z. Epub 2002 Jul 4. Hum Genet. 2002. PMID: 12189489

2

Clinical features and management of organic acidemias in Japan.

Fujisawa D, Nakamura K, Mitsubuchi H, Ohura T, Shigematsu Y, Yorifuji T, Kasahara M, Horikawa R, Endo F. Fujisawa D, et al. Among authors: endo f. J Hum Genet. 2013 Dec;58(12):769-74. doi: 10.1038/jhg.2013.97. Epub 2013 Sep 26. J Hum Genet. 2013. PMID: 24067294

3

Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes.

Kido J, Nakamura K, Matsumoto S, Mitsubuchi H, Ohura T, Shigematsu Y, Yorifuji T, Kasahara M, Horikawa R, Endo F. Kido J, et al. Among authors: endo f. J Hum Genet. 2013 May;58(5):285-92. doi: 10.1038/jhg.2013.17. Epub 2013 Mar 14. J Hum Genet. 2013. PMID: 23486339

4

Diagnosis and treatment of urea cycle disorder in Japan.

Nakamura K, Kido J, Mitsubuchi H, Endo F. Nakamura K, et al. Among authors: endo f. Pediatr Int. 2014 Aug;56(4):506-9. doi: 10.1111/ped.12439. Pediatr Int. 2014. PMID: 25039902 Review.

5

Clinical manifestations and growth of patients with urea cycle disorders in Japan.

Nakamura K, Kido J, Matsumoto S, Mitsubuchi H, Endo F. Nakamura K, et al. Among authors: endo f. J Hum Genet. 2016 Jul;61(7):613-6. doi: 10.1038/jhg.2016.17. Epub 2016 Mar 3. J Hum Genet. 2016. PMID: 26935171

6

Gas chromatographic-mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples.

Kuhara T, Ohse M, Inoue Y, Yorifuji T, Sakura N, Mitsubuchi H, Endo F, Ishimatu J. Kuhara T, et al. Among authors: endo f. J Inherit Metab Dis. 2002 May;25(2):98-106. doi: 10.1023/a:1015620609075. J Inherit Metab Dis. 2002. PMID: 12118533

7

Inborn errors of proline metabolism.

Mitsubuchi H, Nakamura K, Matsumoto S, Endo F. Mitsubuchi H, et al. Among authors: endo f. J Nutr. 2008 Oct;138(10):2016S-2020S. doi: 10.1093/jn/138.10.2016S. J Nutr. 2008. PMID: 18806117 Free article.

8

Urea cycle disorders-update.

Matsumoto S, Häberle J, Kido J, Mitsubuchi H, Endo F, Nakamura K. Matsumoto S, et al. Among authors: endo f. J Hum Genet. 2019 Sep;64(9):833-847. doi: 10.1038/s10038-019-0614-4. Epub 2019 May 20. J Hum Genet. 2019. PMID: 31110235 Review.

9

Complete absence of bile and pancreatic ducts in a newborn: a new entity of congenital anomaly in hepato-pancreatic development.

Nakamura K, Mitsubuchi H, Miyayama H, Yatsunami K, Ishimatsu J, Yamamoto T, Endo F. Nakamura K, et al. Among authors: endo f. J Hum Genet. 2003;48(7):380-4. doi: 10.1007/s10038-003-0041-3. Epub 2003 Jun 28. J Hum Genet. 2003. PMID: 12838397

10

X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency.

Yorifuji T, Muroi J, Uematsu A, Tanaka K, Kiwaki K, Endo F, Matsuda I, Nagasaka H, Furusho K. Yorifuji T, et al. Among authors: endo f. Clin Genet. 1998 Oct;54(4):349-53. doi: 10.1034/j.1399-0004.1998.5440415.x. Clin Genet. 1998. PMID: 9831349

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