24 February 2021

The continued development of Newborn Screening within Europe and in the wider International context. It is now more than 50 years si...

24 January 2021

Consult the pubmed abstract To read more about “Tyrosinemia type 1” Orphanet J Rare Dis . 2020 Oct 12;15(1):281. (source: OrphaN...

24 January 2021

An ERN Exchange Programme 2020-2022 for healthcare professionals in European Reference Networks has been launched, funded by the Eur...

24 January 2021

The Brexit transition period for the United Kingdom, which expired on 31 December 2020, marked the end of UK centre participation in...

24 January 2021

Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amo...

21 January 2021

There is a considerable and long-standing variation in the practice of newborn screening among the countries of Europe. The reason...

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