Detection of glutaric acidemia type 1 in infants through tandem mass spectrometry
Glutaric acidemia type 1 (GA1) is a rare inherited metabolic disorder which goes underdiagnosed due to its latency period and subtle presentation. A pilot clinical study was conducted to assess the usefulness, specificity and sensitivity of the tandem mass (MS/MS) spectrometer, specifically the Abbo...
Tallennettuna:
| Päätekijät: | , , , , , , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Elsevier
2015-06-01
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| Sarja: | Molecular Genetics and Metabolism Reports |
| Aiheet: | |
| Linkit: | http://www.sciencedirect.com/science/article/pii/S2214426915300069 |
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