Yoshida I - 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: yoshida i. 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

Effect of supplementation with L-carnitine at a small dose on acylcarnitine profiles in serum and urine and the renal handling of acylcarnitines in a patient with multiple acyl-coenzyme A dehydrogenation defect.

Yoshino M, Tokunaga Y, Watanabe Y, Yoshida I, Sakaguchi M, Hata I, Shigematsu Y, Kimura M, Yamaguchi S. Yoshino M, et al. Among authors: yoshida i. J Chromatogr B Analyt Technol Biomed Life Sci. 2003 Jul 15;792(1):73-82. doi: 10.1016/s1570-0232(03)00310-6. J Chromatogr B Analyt Technol Biomed Life Sci. 2003. PMID: 12828999

3

A point mutation in exon 3 (His 107-->Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement.

Soda H, Yukizane S, Yoshida I, Koga Y, Aramaki S, Kato H. Soda H, et al. Among authors: yoshida i. Hum Genet. 1996 Apr;97(4):435-7. doi: 10.1007/BF02267062. Hum Genet. 1996. PMID: 8834238

4

Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene.

Shintaku H, Kure S, Ohura T, Okano Y, Ohwada M, Sugiyama N, Sakura N, Yoshida I, Yoshino M, Matsubara Y, Suzuki K, Aoki K, Kitagawa T. Shintaku H, et al. Among authors: yoshida i. Pediatr Res. 2004 Mar;55(3):425-30. doi: 10.1203/01.PDR.0000111283.91564.7E. Epub 2003 Dec 17. Pediatr Res. 2004. PMID: 14681498

5

Pilot study of gas chromatographic-mass spectrometric screening of newborn urine for inborn errors of metabolism after treatment with urease.

Kuhara T, Shinka T, Inoue Y, Ohse M, Zhen-wei X, Yoshida I, Inokuchi T, Yamaguchi S, Takayanagi M, Matsumoto I. Kuhara T, et al. Among authors: yoshida i. J Chromatogr B Biomed Sci Appl. 1999 Aug 6;731(1):141-7. doi: 10.1016/s0378-4347(99)00205-4. J Chromatogr B Biomed Sci Appl. 1999. PMID: 10492000

6

Determination of the 8-methyl ether of xanthurenic acid in human serum by high-performance liquid chromatography with fluorescence detection.

Imai J, Yoshida I, Murayama K, Sakai Y, Shimizu H, Sumi T, Iguchi T, Kawai M, Yamaguchi S. Imai J, et al. Among authors: yoshida i. J Chromatogr B Biomed Appl. 1996 Apr 26;679(1-2):204-7. doi: 10.1016/0378-4347(95)00572-2. J Chromatogr B Biomed Appl. 1996. PMID: 8998563

7

Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT-->TAG) at Tyr-40 in exon 2, (Y40X).

Soda H, Yukizane S, Yoshida I, Aramaki S, Kato H. Soda H, et al. Among authors: yoshida i. Hum Mutat. 1995;5(4):348-50. doi: 10.1002/humu.1380050415. Hum Mutat. 1995. PMID: 7627193 No abstract available.

8

The effect of furosemide on a patient with hyperkalaemic hypertension and short stature.

Tokunaga Y, Yoshida I, Endo F, Kato H. Tokunaga Y, et al. Among authors: yoshida i. Eur J Pediatr. 1995 Oct;154(10):870. doi: 10.1007/BF01959807. Eur J Pediatr. 1995. PMID: 8529697 No abstract available.

9

Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.

Wataya K, Akanuma J, Cavadini P, Aoki Y, Kure S, Invernizzi F, Yoshida I, Kira J, Taroni F, Matsubara Y, Narisawa K. Wataya K, et al. Among authors: yoshida i. Hum Mutat. 1998;11(5):377-86. doi: 10.1002/(SICI)1098-1004(1998)11:5<377::AID-HUMU5>3.0.CO;2-E. Hum Mutat. 1998. PMID: 9600456

10

Glycerol kinase deficiency: evidence for complexity in a single gene disorder.

Dipple KM, Zhang YH, Huang BL, McCabe LL, Dallongeville J, Inokuchi T, Kimura M, Marx HJ, Roederer GO, Shih V, Yamaguchi S, Yoshida I, McCabe ER. Dipple KM, et al. Among authors: yoshida i. Hum Genet. 2001 Jul;109(1):55-62. doi: 10.1007/s004390100545. Hum Genet. 2001. PMID: 11479736

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