Nakahata T - Search Results

1

Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.

Muroi J, Yorifuji T, Uematsu A, Shigematsu Y, Onigata K, Maruyama H, Nobutoki T, Kitamura A, Nakahata T. Muroi J, et al. Among authors: nakahata t. Hum Genet. 2000 Oct;107(4):320-6. doi: 10.1007/s004390000363. Hum Genet. 2000. PMID: 11129331

2

Cerebral infarction and pancreatitis: possible complications of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Muroi J, Yorifuji T, Uematsu A, Nakahata T. Muroi J, et al. Among authors: nakahata t. J Inherit Metab Dis. 2000 Sep;23(6):636-7. doi: 10.1023/a:1005642316174. J Inherit Metab Dis. 2000. PMID: 11032339 No abstract available.

3

Living-related liver transplantation for neonatal-onset propionic acidemia.

Yorifuji T, Muroi J, Uematsu A, Nakahata T, Egawa H, Tanaka K. Yorifuji T, et al. Among authors: nakahata t. J Pediatr. 2000 Oct;137(4):572-4. doi: 10.1067/mpd.2000.108391. J Pediatr. 2000. PMID: 11035841

4

Analysis of the SRY gene in Turner syndrome patients with Y chromosomal material.

Yorifuji T, Muroi J, Mamada M, Uematsu A, Kawai M, Momoi T, Kaji M, Yamanaka C, Nakahata T. Yorifuji T, et al. Among authors: nakahata t. J Med Genet. 2001 Nov;38(11):E41. doi: 10.1136/jmg.38.11.e41. J Med Genet. 2001. PMID: 11694555 Free PMC article. No abstract available.

5

Intracranial aneurysms in Ehlers-Danlos syndrome type IV in early childhood.

Kato T, Hattori H, Yorifuji T, Tashiro Y, Nakahata T. Kato T, et al. Among authors: nakahata t. Pediatr Neurol. 2001 Oct;25(4):336-9. doi: 10.1016/s0887-8994(01)00315-0. Pediatr Neurol. 2001. PMID: 11704406 Review.

6

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: nakahata t. Hum Genet. 2002 Aug;111(2):161-5. doi: 10.1007/s00439-002-0761-z. Epub 2002 Jul 4. Hum Genet. 2002. PMID: 12189489

7

Parental origin of normal X chromosomes in Turner syndrome patients with various karyotypes: implications for the mechanism leading to generation of a 45,X karyotype.

Uematsu A, Yorifuji T, Muroi J, Kawai M, Mamada M, Kaji M, Yamanaka C, Momoi T, Nakahata T. Uematsu A, et al. Among authors: nakahata t. Am J Med Genet. 2002 Aug 1;111(2):134-9. doi: 10.1002/ajmg.10506. Am J Med Genet. 2002. PMID: 12210339 Review.

8

Earlier initiation of GH therapy does not influence adult height but enables earlier start of pubertal induction in children with multiple pituitary hormone deficiency.

Kawai M, Momoi T, Mamada M, Yorifuji T, Nakahata T. Kawai M, et al. Among authors: nakahata t. Clin Endocrinol (Oxf). 2004 May;60(5):608-12. doi: 10.1111/j.1365-2265.2004.02013.x. Clin Endocrinol (Oxf). 2004. PMID: 15104564

9

Living-donor liver transplantation for propionic acidaemia.

Yorifuji T, Kawai M, Mamada M, Kurokawa K, Egawa H, Shigematsu Y, Kohno Y, Tanaka K, Nakahata T. Yorifuji T, et al. Among authors: nakahata t. J Inherit Metab Dis. 2004;27(2):205-10. doi: 10.1023/B:BOLI.0000028778.54210.13. J Inherit Metab Dis. 2004. PMID: 15159651

10

Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism.

Yorifuji T, Kurokawa K, Mamada M, Imai T, Kawai M, Nishi Y, Shishido S, Hasegawa Y, Nakahata T. Yorifuji T, et al. Among authors: nakahata t. J Clin Endocrinol Metab. 2004 Jun;89(6):2905-8. doi: 10.1210/jc.2003-031828. J Clin Endocrinol Metab. 2004. PMID: 15181075

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