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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Veröffentlicht in:Mol Genet Metab Rep
Hauptverfasser: Babu, Ruby P., Bishnupriya, G., Thushara, P.K., Alap, Christy, Cariappa, Rohit, Annapoorani, Viswanathan, Kasi
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2015
Schlagworte:
Research Paper
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4750559/
https://ncbi.nlm.nih.gov/pubmed/26937400
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2015.04.002
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