A Non-Derivatized Assay for the Simultaneous Detection of Amino Acids, Acylcarnitines, Succinylacetone, Creatine, and Guanidinoacetic Acid in Dried Blood Spots via Tandem Mass Spectrometry

Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive genetic disorder which results in global developmental delay and intellectual disability. There is evidence that early treatment prevents intellectual disability and seizures. GAMT deficiency is now being discussed as a p...

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Main Authors: Carter K. Asef (Author), Kameron M. Khaksarfard (Author), Víctor R. De Jesús (Author)
Format: Book
Published: MDPI AG, 2016-11-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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