Newborn screening

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Master's thesis of Science: Advancing the collection and storage of blood micro-volumes for downstream applications

The thesis is structured as follows: Chapter 1 reviews the literature and outlines the importance of blood, clinical use of blood, current methods of blood collection including alternative methods and the benefits of DBS. Chapter 2 summaries the overall methods used in the project. Chapter 3 explains the utility of hemaPEN® from both the collection and analytical perspective. Chapter 4 expands on the HCT bias associated with standard DBS method. Chapter 5 expands on the use of DBS in other fields such as genomic and epigenomics.

164p runthenight04 02-02-2023 6 2 Download

Báo cáo khoa học: The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identiﬁed by MS/MS-based newborn screening, is temperature sensitiv

Medium-chain acyl-CoA dehydrogenase (MCAD) is a homotetrameric flavoprotein which catalyses the initial step of theb-oxidationofmedium-chain fattyacids.Mutations in MCAD may cause disease in humans. A Y42H mutation is frequently found in babies identified by newborn screening with MS/MS, yet there are no reports of patients presenting clinically with this mutation. As a basis for judging its potential consequences we have examined the protein phe-notype of the Y42H mutation and the common disease-associatedK304E mutation. ...

11p awards 05-04-2013 44 4 Download