GAMT-D newborn screening feasibility - Report
chapterposted on 17.07.2021, 08:58 by Desiree SmithDesiree Smith
Feasibility study for the implementation of guanidinoacetate methyltransferase deficiency (GAMT-D) in the Dutch newborn screening. The project includes a report covering the costs, logistic, legal, psychosocial and analytical perspectives, a care path for GAMT-D, a validation plan for tier 1, a validation report for tier 1, a standard operating procedure for tier 1, reference values for guanidinoaceate, creatine and guanidinoacetate/creatine ratio for newborns, scatterplots and histograms of these reference values (IBM SPSS 26).
Research priority area
- Metabolic Diseases