Glutaryl-CoA dehydrogenase deficiency : a study showed that newborn screening programs for Glutaric aciduria type 1 have an overall positive effect on the neurological outcome but their success depends on the quality of therapy Consult the pubmed abstract To read more about “Glutaryl-CoA dehydrogenase deficiency” Genet Med . 2021 Jan;23(1):13-21. (source: OrphaNews 10 May 2021) Related news Methods for estimating rare disease prevalence A new article has been published in Rare Disease and Orphan Drugs Jour... New European Commission fact sheet on rare diseases The European Commission has published a new fact sheet titled “EU Ac... Screening and Prenatal Diagnosis The importance of evidence-based screening programmes Recently, an art... Conclusions of the Conference on Rare Diseases and European Reference Networks The conclusions and recommendations of the conference on Rare Diseases... Using economic evaluations to make decisions about the content of newborn screening programs in LMIC A new article in the Journal of Inborn Errors of Metabolism and Screen... CLSI NBS02: Newborn Screening Follow-Up ; new edition available CLSI NBS02 describes the basic principles, scope, and range of follow-...