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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...
Autores principales: | Kim, Ji Hyun, Cho, Sung Min, Chae, Jong-Hee |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Pediatric Society
2017
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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 |
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