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-Reference-Cited by-同舟云学术

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

Published:2003-07 Issue:5 Volume:26 Page:423-431
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Fukao T.¹,Zhang G.-X.²,Sakura N.³,Kubo T.⁴,Yamaga H.⁵,Hazama A.⁶,Kohno Y.⁷,Matsuo N.²,Kondo M.²,Yamaguchi S.⁸,Shigematsu Y.⁹,Kondo N.²

Affiliation:

1. ; Department of Pediatrics; Gifu University School of Medicine; 40 Tsukasa-machi, Gifu Gifu 500-8705 Japan

2. ; Department of Pediatrics; Gifu University School of Medicine; Japan

3. ; Department of Pediatrics; Hiroshima University Graduate School of Biomedical Sciences; Japan

4. ; Department of Pediatrics; Hokushiń General Hospital; Japan

5. Department of Pediatrics; Naga District Hospital; Japan

6. Department of Pediatrics; Osaka Saiseikai Ibaragi Hospital; Japan

7. Department of Pediatrics; Nagara National Hospital; Japan

8. ; Department of Pediatrics; Shimane Medical University; Japan

9. Department of Pediatrics; Fukui Medical University School of Medicine; Japan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1025117226051/fullpdf

Reference18 articles.

1. A ‘new’ disorder of isoleucine catabolism;Daum;Lancet,1971

2. Metabolic studies in twin brothers with 2-methylacetoacetyl-CoA thiolase deficiency;Fontaine;Clin Chim Acta,1996

3. Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-CoA thiolase: a complete analysis of two generations of a family with 3-ketothiolase deficiency;Fukao;J Clin Invest,1992

4. Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase in two original families;Fukao;Hum Mutat,1993

5. Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes;Fukao;Clin Genet,1996

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