Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: 1H NMR spectroscopy and genetic testing
Abstract 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 nuc...
| Үндсэн зохиолчид: | , , , , , , , |
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| Формат: | Өгүүллэг |
| Хэл сонгох: | English |
| Хэвлэсэн: |
BMC
2019-09-01
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| Цуврал: | Orphanet Journal of Rare Diseases |
| Нөхцлүүд: | |
| Онлайн хандалт: | http://link.springer.com/article/10.1186/s13023-019-1174-6 |