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

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

Publikováno v: Journal of Inherited Metabolic Disease. 40:395-401

Beta-ketothiolase (T2) deficiency is an inherited disease of isoleucine and ketone body metabolism caused by mutations in the ACAT1 gene. Between 2005 and 2016, a total of 41 patients with T2 deficiency were identified at a medical center in northern

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::008d76f226a42fffe122fb5542f935f7
https://doi.org/10.1007/s10545-017-0026-6

A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

Autor: Nhan Thu Nguyen, Liem Thanh Nguyen, Seiji Yamaguchi, Tom J. de Koning, Kary E. Niezen-Koning, Dung Chi Vu, Khanh Ngoc Nguyen, Hironori Kobayashi, Ronald J.A. Wanders, Ngoc Thi Bich Can, Hoan Thi Hoan Thi Nguyen, Thao Phuong Bui, Anh Thi Van Pham, Yuki Hasegawa, Toshiyuki Fukao, Naomi Kondo

Publikováno v: Molecular Genetics and Metabolism, 100(1), 37-41. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular genetics and metabolism, 100(1), 37-41. Academic Press Inc.

Mitochondrial acetoacetyl-CoA thiolase (12) deficiency is an inborn error of metabolism affecting isoleucine catabolism and ketone body utilization. This disorder is clinically characterized by intermittent keto-acidotic episodes with no clinical sym

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7f84dfeeb09a2dc361d90573e916eaa
https://doi.org/10.1016/j.ymgme.2010.01.007

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