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A compound heterozygous mutation in the FMO3 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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Detalles Bibliográficos
Autores principales: Kim, Ji Hyun, Cho, Sung Min, Chae, Jong-Hee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5383638/
https://www.ncbi.nlm.nih.gov/pubmed/28392825
http://dx.doi.org/10.3345/kjp.2017.60.3.94