Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: (1)H NMR spectroscopy and genetic testing

BACKGROUND: Trimethylaminuria (TMAU) is a metabolic disorder characterized by the excessive excretion of the malodorous compound trimethylamine (TMA). The diagnosis of TMAU is challenging because this disorder is situated at the boundary between biochemistry and psychiatry. Here, we used nuclear mag...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Bouchemal, Nadia, Ouss, Lisa, Brassier, Anaïs, Barbier, Valérie, Gobin, Stéphanie, Hubert, Laurence, de Lonlay, Pascale, Le Moyec, Laurence
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6751875/
https://ncbi.nlm.nih.gov/pubmed/31533761
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1174-6
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