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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:JIMD Rep
Prif Awduron: Doyle, Samantha, O'Byrne, James J., Nesbitt, Mandy, Murphy, Daniel N., Abidin, Zaza, Byrne, Niall, Pastores, Gregory, Kirk, Richard, Treacy, Eileen P.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley & Sons, Inc. 2019
Pynciau:
Research Reports
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6498825/
https://ncbi.nlm.nih.gov/pubmed/31240165
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12028
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