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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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| 發表在: | Int J Neonatal Screen |
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| Main Authors: | , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
2016
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| 主題: | |
| 在線閱讀: | 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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