The genetic and biochemical basis of trimethylaminuria in an Irish cohort

BACKGROUND: Inherited trimethylaminuria (TMAU), a rare genetic disorder of hepatic metabolism of trimethylamine (TMA) causing excessive accumulation of malodorous trimethylamine (TMA), is a socially distressing disorder. Diagnosis is made by biochemical analysis of urine, with the calculation of fla...

Descripción completa

Detalles Bibliográficos
Autores principales: Doyle, Samantha, O'Byrne, James J., Nesbitt, Mandy, Murphy, Daniel N., Abidin, Zaza, Byrne, Niall, Pastores, Gregory, Kirk, Richard, Treacy, Eileen P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498825/
https://www.ncbi.nlm.nih.gov/pubmed/31240165
http://dx.doi.org/10.1002/jmd2.12028

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498825/
https://www.ncbi.nlm.nih.gov/pubmed/31240165
http://dx.doi.org/10.1002/jmd2.12028

Ejemplares similares