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...
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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Elsevier
2015-06-01
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| Col·lecció: | Molecular Genetics and Metabolism Reports |
| Matèries: | |
| Accés en línia: | http://www.sciencedirect.com/science/article/pii/S2214426915300069 |
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