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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
News
Building a better future for rare diseases: campaigns launched at European and international level
12 July 2021
EURORDIS and Rare Diseases International have launched, respectively, campaigns for European and International Action on rare diseas...
The first International Neonatal Screening day is here!
28 June 2021
It is more than 50 years since population newborn screening began. The newborn screening programmes have provided life changing bene...
Cystic fibrosis : a review of gene therapy for cystic fibrosis
10 May 2021
Consult the pubmed abstract To read more about “Cystic fibrosis” Mol Ther . 2021 Feb 3;29(2):428-430. (source: OrphaNews 10 May ...
Phenylketonuria : a study showed study improvements in cognitive function, anxiety, and depression ratings associated with resumption of dietary control of phenylketonuria
10 May 2021
Consult the pubmed abstract To read more about “Phenylketonuria” Orphanet J Rare Dis . 2021 Jan 18;16(1):35. (Source: OrhpaNews ...
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
10 May 2021
Consult the pubmed abstract To read more about “Glutaryl-CoA dehydrogenase deficiency” Genet Med . 2021 Jan;23(1):13-21. (source...
European Alliance for Newborn Screening for Spinal Muscular Atrophy : New whitepaper on “Spinal muscular atrophy, screen at birth, save lives”
10 May 2021
The European Alliance for Newborn Screening for Spinal Muscular Atrophy, composed of European patient organisations, academics and t...
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