Non-derivatized Assay for the Simultaneous Detection of Amino Acids, Acylcarnitines, Succinylacetone, Creatine, and Guanidinoacetic Acid in Dried Blood Spots by 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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Bibliografische gegevens
Gepubliceerd in:Int J Neonatal Screen
Hoofdauteurs: Asef, Carter K., Khaksarfard, Kameron M., De Jesús, Víctor R.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2016
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5580725/
https://ncbi.nlm.nih.gov/pubmed/28868498
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns2040013
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