Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis.

Nikolas BoyKatharina MenglerJana Heringer-SeifertGeorg F HoffmannSven F GarbadeStefan Kölker

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

This meta-analysis demonstrates that NBS programs for GA1 have an overall positive effect on the neurological outcome of affected individuals but their success critically depends on the quality of therapy.

Keyphrases

systematic review
pet ct
public health
quality improvement
stem cells
bone marrow
blood brain barrier