Titlebook: JIMD Reports, Volume 39; Eva Morava (Editor-in-Chief),Matthias Baumgartner, Book 2018 Society for the Study of Inborn Errors of Metabolism

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High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant sts of healthy controls, an SP MPSIIIB patient (homozygous for the temperature sensitive mutation p.S612G) and an RP MPSIIIB patient (homozygous for the p.R297* mutation and non-temperature sensitive), were used. A high-throughput assay for measurement of NAGLU activity was developed and validated,

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Sidharth Mahapatra,Amitha Ananth,Nancy Baugh,Mihaela Damian,Gregory M. Ennssystem—on the other hand, we can be totally sure that we will never be able to forecast exactly whatever that “something” will be. At lower levels of biological hierarchy, e.g., the molecular level represented by molecules like DNA, RNA, and proteins, ontic openness seems pretty easy to comprehend.

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