Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years’ experience of a medical center in northern Vietnam-Reference-Cited by-同舟云学术

Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years’ experience of a medical center in northern Vietnam

Published:2017-02-20 Issue:3 Volume:40 Page:395-401
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Nguyen Khanh Ngoc,Abdelkreem Elsayed^ORCID,Colombo Roberto,Hasegawa Yuki,Can Ngoc Thi Bich,Bui Thao Phuong,Le Hai Thanh,Tran Mai Thi Chi,Nguyen Hoan Thi,Trinh Hung Thanh,Aoyama Yuka,Sasai Hideo,Yamaguchi Seiji,Fukao Toshiyuki,Vu Dung Chi

Funder

Ministry of Education, Culture, Sports, Science and Technology of Japan

Regione Lombardia, Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-017-0026-6.pdf

Reference26 articles.

1. Abdelkreem E, Otsuka H, Sasai H et al (2016) Beta-ketothiolase deficiency: resolving challenges in diagnosis. J Inborn Errors Metab Screen 4:1–9

2. Akella RR, Aoyama Y, Mori C, Lingappa L, Cariappa R, Fukao T (2014) Metabolic encephalopathy in beta-ketothiolase deficiency: the first report from India. Brain Dev 36:537–540

3. Aramaki S, Lehotay D, Sweetman L, Nyhan WL, Winter SC, Middleton B (1991) Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency. J Inherit Metab Dis 14:63–74

4. Bonnefont JP, Specola NB, Vassault A et al (1990) The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states. Eur J Pediatr 150:80–85

5. Buhaş D, Bernard G, Fukao T, Décarie JC, Chouinard S, Mitchell GA (2013) A treatable new cause of chorea: beta-ketothiolase deficiency. Mov Disord 28:1054–1056

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