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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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Uloženo v:
Hlavní autoři: Ruby P. Babu, G. Bishnupriya, P.K. Thushara, Christy Alap, Rohit Cariappa, Annapoorani, Kasi Viswanathan
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2015-06-01
Edice:Molecular Genetics and Metabolism Reports
Témata:
Glutaric acidemia
Tandem mass
Organic acidemias
On-line přístup:http://www.sciencedirect.com/science/article/pii/S2214426915300069
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