AB014. Beta-ketothiolase deficiency: phenotype, genotype and outcome of 48 Vietnamese patients

Autor:	Khanh Ngoc Nguyen, Toshiyuki Fukao, Dung Chi Vu, Ngoc Thi Bich Can, Mai Thi Thanh Do, Thao Phuong Bui, Hoan Thi Nguyen
Jazyk:	angličtina
Rok vydání:	2017
Předmět:	Genetics Vietnamese Beta-ketothiolase deficiency T2 Deficiency language Phenotype genotype medicine Newborn Screening Inborn Errors of Metabolism Mitochondrial Acetoacetyl-CoA Thiolase deficiency General Medicine Biology medicine.disease language.human_language
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80c685196003f7ea687064b7eb267e41 https://europepmc.org/articles/PMC5641784/ Zobrazit plný text záznamu