Yamaguchi S - Search Results

1

Normal pituitary function in a Japanese patient with Barth syndrome.

Katsushima Y, Fujiwara I, Sakamoto O, Ohura T, Miyabayashi S, Ohnuma A, Yamaguchi S, Iinuma K. Katsushima Y, et al. Among authors: yamaguchi s. Eur J Pediatr. 2002 Jan;161(1):67-8. doi: 10.1007/s00431-001-0869-5. Eur J Pediatr. 2002. PMID: 11808885 No abstract available.

2

Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.

Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, Yamaguchi S, Takahashi Y, Nishikubo T, Kawaguchi C, Yoshioka A, Kimura T, Hayasaka K, Kohno Y, Iinuma K, Ohura T. Yang X, et al. Among authors: yamaguchi s. Mol Genet Metab. 2004 Apr;81(4):335-42. doi: 10.1016/j.ymgme.2004.01.003. Mol Genet Metab. 2004. PMID: 15059621

3

Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.

Uematsu M, Sakamoto O, Sugawara N, Kumagai N, Morimoto T, Yamaguchi S, Hasegawa Y, Kobayashi H, Ihara K, Yoshino M, Watanabe Y, Inokuchi T, Yokoyama T, Kiwaki K, Nakamura K, Endo F, Tsuchiya S, Ohura T. Uematsu M, et al. Among authors: yamaguchi s. J Hum Genet. 2007;52(12):1040-1043. doi: 10.1007/s10038-007-0211-9. Epub 2007 Oct 30. J Hum Genet. 2007. PMID: 17968484

4

Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan.

Tsuburaya R, Sakamoto O, Arai N, Kobayashi H, Hasegawa Y, Yamaguchi S, Shigematsu Y, Takayanagi M, Ohura T, Tsuchiya S. Tsuburaya R, et al. Among authors: yamaguchi s. Brain Dev. 2010 May;32(5):409-11. doi: 10.1016/j.braindev.2009.03.004. Epub 2009 Apr 3. Brain Dev. 2010. PMID: 19345525

5

A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia.

Akamine S, Ishizaki Y, Sakai Y, Torisu H, Fukai R, Miyake N, Ohkubo K, Koga H, Sanefuji M, Sakata A, Kimura M, Yamaguchi S, Sakamoto O, Hara T, Saitsu H, Matsumoto N, Ohga S. Akamine S, et al. Among authors: yamaguchi s. Eur J Med Genet. 2018 Aug;61(8):451-454. doi: 10.1016/j.ejmg.2018.03.003. Epub 2018 Mar 3. Eur J Med Genet. 2018. PMID: 29510241

6

Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass Spectrometry.

Fukao T, Maruyama S, Ohura T, Hasegawa Y, Toyoshima M, Haapalainen AM, Kuwada N, Imamura M, Yuasa I, Wierenga RK, Yamaguchi S, Kondo N. Fukao T, et al. Among authors: yamaguchi s. JIMD Rep. 2012;3:107-15. doi: 10.1007/8904_2011_72. Epub 2011 Sep 6. JIMD Rep. 2012. PMID: 23430882 Free PMC article.

7

Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.

Gupta D, Bijarnia-Mahay S, Kohli S, Saxena R, Puri RD, Shigematsu Y, Yamaguchi S, Sakamoto O, Gupta N, Kabra M, Thakur S, Deb R, Verma IC. Gupta D, et al. Among authors: yamaguchi s. Genet Test Mol Biomarkers. 2016 Jul;20(7):373-82. doi: 10.1089/gtmb.2016.0017. Epub 2016 May 26. Genet Test Mol Biomarkers. 2016. PMID: 27227689

8

A case of hyperinsulinism/hyperammonaemia syndrome: usefulness of the oral protein tolerance for the evaluation of treatment.

Toriumi Y, Murata K, Taketani T, Uchiyama A, Ohie T, Yamaguchi S. Toriumi Y, et al. Among authors: yamaguchi s. Eur J Pediatr. 2005 Mar;164(3):182-3. doi: 10.1007/s00431-004-1592-9. Epub 2004 Dec 3. Eur J Pediatr. 2005. PMID: 15580356 No abstract available.

9

A girl with partial trisomy 5q35-->qter and partial trisomy 13pter-->q31 derived via a maternal balanced translocation.

Uchiyama A, Haneda N, Saito K, Miyamoto S, Takusa Y, Kanai R, Kimura M, Sejima H, Yamaguchi S. Uchiyama A, et al. Among authors: yamaguchi s. Eur J Pediatr. 2002 Jun;161(6):360-1. doi: 10.1007/s00431-002-0946-4. Epub 2002 Apr 16. Eur J Pediatr. 2002. PMID: 12029462

10

New bone formation by allogeneic mesenchymal stem cell transplantation in a patient with perinatal hypophosphatasia.

Tadokoro M, Kanai R, Taketani T, Uchio Y, Yamaguchi S, Ohgushi H. Tadokoro M, et al. Among authors: yamaguchi s. J Pediatr. 2009 Jun;154(6):924-30. doi: 10.1016/j.jpeds.2008.12.021. J Pediatr. 2009. PMID: 19446101

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

5,543 results

Search Page

Filters