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 CLSI NBS02: Newborn Screening Follow-Up ; new edition available CLSI NBS02 describes the basic principles, scope, and range of follow-... When is the best time to screen for treatable genetic disorders? A new article published in the American Journal of Human Genetics aims... Steps since the 2021 UN Resolution on Rare Diseases: A review Last month marks a year since the adoption in December 2021 of the UN ... 40 Years of the USA’s Orphan Drug Act: NORD takes stock This month, the National Organization for Rare Disorders (NORD) is joi... Universal neonatal screening for Sickle Cell Disease in France The Haute Autorité de la Santé in France recently recommended to swi... Together4RD launches policy asks at European Parliament On 10 November 2022, Together4RD organised an event at the European Pa...