• Home
  • News
  • Events
  • ISNS Info
    • ISNS Facts
    • ISNS Regions
    • Guthrie award
    • Dussault medal
    • Loeber award
    • Constitution
    • Guidelines
    • How to become a member
  • Links
  • Membership-info
  • Contact
  • Member login
  • English
    • Home
    • News
    • Events
    • ISNS Info
      • ISNS Facts
      • ISNS Regions
      • Guthrie award
      • Dussault medal
      • Loeber award
      • Constitution
      • Guidelines
      • How to become a member
    • Links
    • Membership-info
    • Contact
    • Member login
    • English

    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

    Report NGO Committee for Rare Diseases on Rare Disease Day event “Rare Diseases: A Global Priority for Equity”

    The NGO Committee for Rare Diseases and its partners, including Rare D...

    Campaign for the adoption of a Rare Disease strategy in Canada

    The Canadian Organization for Rare Disorders (CORD) has launched a cam...

    Launch of the European Health Data Space

    On 3 May 2022, the European Commission has launched the European Healt...

    Mothers’ knowledge and attitudes about newborn screening in Jordan

    A new article has been published in the Journal of Community Genetics ...

    MetabERN: Article on the Screen4rare initiative for newborn screening programmes in Europe

    MetabERN has published a new article in the Lancet Regional Health jou...

    MetabERN: Study on the evolution of rare disease registries

    MetabERN has published a new article in the Frontiers in Endocrinology...

    Copyright 2020 ISNS - International Society for Neonatal Screening

    Development by Best4u Media B.V.