A compound heterozygous mutation in the gene: the first pediatric case causes fish odor syndrome in Korea

Trimethylaminuria (TMAuria), known as “fish odor syndrome,” is a congenital metabolic disorder characterized by an odor resembling that of rotting fish. This odor is caused by the secretion of trimethylamine (TMA) in the breath, sweat, and body secretions and the excretion of TMA along with urine. T...

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Bibliographic Details
Main Authors: Ji Hyun Kim, Sung Min Cho, Jong-Hee Chae
Format: Article
Language:English
Published: Korean Pediatric Society 2017-03-01
Series:Korean Journal of Pediatrics
Subjects:
Online Access:http://kjp.or.kr/upload/pdf/kjped-60-94.pdf