Sakura N - Search Results

1

The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity.

Fukao T, Zhang GX, Sakura N, Kubo T, Yamaga H, Hazama A, Kohno Y, Matsuo N, Kondo M, Yamaguchi S, Shigematsu Y, Kondo N. Fukao T, et al. Among authors: sakura n. J Inherit Metab Dis. 2003;26(5):423-31. doi: 10.1023/a:1025117226051. J Inherit Metab Dis. 2003. PMID: 14518824

2

Further analysis of mutant thiolase protein in fibroblasts from a Japanese boy with 3-ketothiolase deficiency.

Yamaguchi S, Fukao T, Kano M, Wakazono A, Orii T, Sakura N, Hashimoto T. Yamaguchi S, et al. Among authors: sakura n. Tohoku J Exp Med. 1992 Jun;167(2):143-53. doi: 10.1620/tjem.167.143. Tohoku J Exp Med. 1992. PMID: 1362011 Free article.

3

Immunochemical studies of cultured fibroblasts from a patient with 3-ketothiolase deficiency.

Yamaguchi S, Orii T, Sakura N, Miyazawa S, Hashimoto T. Yamaguchi S, et al. Among authors: sakura n. J Inherit Metab Dis. 1988;11(3):345-7. doi: 10.1007/BF01800390. J Inherit Metab Dis. 1988. PMID: 3148087 No abstract available.

4

Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency.

Yamaguchi S, Orii T, Sakura N, Miyazawa S, Hashimoto T. Yamaguchi S, et al. Among authors: sakura n. J Clin Invest. 1988 Mar;81(3):813-7. doi: 10.1172/JCI113388. J Clin Invest. 1988. PMID: 2893809 Free PMC article.

5

3-Ketothiolase deficiency: molecular heterogeneity of the enzyme defect and cloning of the cDNA.

Yamaguchi S, Fukao T, Nagasawa H, Orii T, Sakura N, Schutgens RB, Sweetman L, Fujiki Y, Kamijo K, Osumi T, et al. Yamaguchi S, et al. Among authors: sakura n. Prog Clin Biol Res. 1990;321:673-9. Prog Clin Biol Res. 1990. PMID: 1970183 No abstract available.

6

Asthma as the first presenting symptom of complex glycerol kinase deficiency.

Sakura N, Nishimura S, Kawahara N, Komazawa Y, Yamaguchi S. Sakura N, et al. Acta Paediatr Scand. 1991 Jun-Jul;80(6-7):723-5. doi: 10.1111/j.1651-2227.1991.tb11936.x. Acta Paediatr Scand. 1991. PMID: 1867094

7

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: sakura n. J Inherit Metab Dis. 2002 May;25(2):98-106. doi: 10.1023/a:1015620609075. J Inherit Metab Dis. 2002. PMID: 12118533

8

Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus.

Muroya K, Ogata T, Matsuo N, Nagai T, Franco B, Ballabio A, Rappold G, Sakura N, Fukushima Y. Muroya K, et al. Among authors: sakura n. Am J Med Genet. 1996 Sep 6;64(4):583-7. doi: 10.1002/(SICI)1096-8628(19960906)64:4<583::AID-AJMG11>3.0.CO;2-D. Am J Med Genet. 1996. PMID: 8870926

9

Allergic disease as an association of steroid sulphatase deficiency.

Sakura N, Nishimura S, Matsumoto T, Ohsaki M, Ogata T. Sakura N, et al. J Inherit Metab Dis. 1997 Nov;20(6):807-10. doi: 10.1023/a:1005375902993. J Inherit Metab Dis. 1997. PMID: 9427150

10

Type II citrullinaemia (citrin deficiency) in a neonate with hypergalactosaemia detected by mass screening.

Naito E, Ito M, Matsuura S, Yokota, Saijo T, Ogawa Y, Kitamura S, Kobayashi K, Saheki T, Nishimura Y, Sakura N, Kuroda Y. Naito E, et al. Among authors: sakura n. J Inherit Metab Dis. 2002 Feb;25(1):71-6. doi: 10.1023/a:1015198103395. J Inherit Metab Dis. 2002. PMID: 11999983

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

185 results

Search Page

Filters