Yamaguchi S - Search Results

1

[Diagnosis and treatment of biotinidase deficiency-clinical study of six patients].

Yang YL, Yamaguchi S, Tagami Y, Zhang YH, Xiong H, Hasegawa Y, Kimura M, Hanai J, Fujita K, Qian N, He XJ, Wu Y, Bao XH, Qin J, Wu X. Yang YL, et al. Among authors: yamaguchi s. Zhonghua Er Ke Za Zhi. 2003 Apr;41(4):249-51. Zhonghua Er Ke Za Zhi. 2003. PMID: 14754524 Chinese.

2

A sensitive and simplified method to analyze free fatty acids in children with mitochondrial beta oxidation disorders using gas chromatography/mass spectrometry and dried blood spots.

Kimura M, Yoon HR, Wasant P, Takahashi Y, Yamaguchi S. Kimura M, et al. Among authors: yamaguchi s. Clin Chim Acta. 2002 Feb;316(1-2):117-21. doi: 10.1016/s0009-8981(01)00741-0. Clin Chim Acta. 2002. PMID: 11750281

3

Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene.

Aoshima T, Kajita M, Sekido Y, Ishiguro Y, Tsuge I, Kimura M, Yamaguchi S, Watanabe K, Shimokata K, Niwa T. Aoshima T, et al. Among authors: yamaguchi s. Hum Hered. 2002;53(1):42-4. doi: 10.1159/000048603. Hum Hered. 2002. PMID: 11901270

4

Identification and characterization of temperature-sensitive mild mutations in three Japanese patients with nonsevere forms of very-long-chain acyl-CoA dehydrogenase deficiency.

Takusa Y, Fukao T, Kimura M, Uchiyama A, Abo W, Tsuboi Y, Hirose S, Fujioka H, Kondo N, Yamaguchi S. Takusa Y, et al. Among authors: yamaguchi s. Mol Genet Metab. 2002 Mar;75(3):227-34. doi: 10.1006/mgme.2002.3297. Mol Genet Metab. 2002. PMID: 11914034

5

[Carnitine acylcarnitine translocase deficiency].

Kimura M, Yamaguchi S. Kimura M, et al. Among authors: yamaguchi s. Nihon Rinsho. 2002 Apr;60 Suppl 4:714-6. Nihon Rinsho. 2002. PMID: 12013981 Review. Japanese. No abstract available.

6

[Very-long-chain acyl-CoA dehydrogenase deficiency].

Hasegawa Y, Yamaguchi S. Hasegawa Y, et al. Among authors: yamaguchi s. Nihon Rinsho. 2002 Apr;60 Suppl 4:717-21. Nihon Rinsho. 2002. PMID: 12013982 Review. Japanese. No abstract available.

7

[Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency].

Kimura M, Yamaguchi S. Kimura M, et al. Among authors: yamaguchi s. Nihon Rinsho. 2002 Apr;60 Suppl 4:734-7. Nihon Rinsho. 2002. PMID: 12013986 Review. Japanese. No abstract available.

8

[Mitochondrial carnitine acylcarnitine translocase].

Kimura M, Yamaguchi S. Kimura M, et al. Among authors: yamaguchi s. Nihon Rinsho. 2002 Apr;60 Suppl 4:85-7. Nihon Rinsho. 2002. PMID: 12014004 Review. Japanese. No abstract available.

9

Serial magnetic resonance angiography in cerebral infarction after varicella infection.

Kimura M, Hasegawa Y, Sejima H, Inoue M, Yamaguchi S. Kimura M, et al. Among authors: yamaguchi s. Psychiatry Clin Neurosci. 2002 Oct;56(5):585-8. doi: 10.1046/j.1440-1819.2002.01058.x. Psychiatry Clin Neurosci. 2002. PMID: 12193251 Free article.

10

A survey of Japanese patients with mitochondrial fatty acid beta-oxidation and related disorders as detected from 1985 to 2000.

Tamaoki Y, Kimura M, Hasegawa Y, Iga M, Inoue M, Yamaguchi S. Tamaoki Y, et al. Among authors: yamaguchi s. Brain Dev. 2002 Oct;24(7):675-80. doi: 10.1016/s0387-7604(02)00074-8. Brain Dev. 2002. PMID: 12427513

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