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U-IMD: the first Unified European registry for inherited metabolic diseases

Following the broad application of new analytical methods, more and more pathophysiological processes in previously unknown diseases have been elucidated. The spectrum of clinical presentation of rare inherited metabolic diseases (IMDs) is broad and ranges from single organ involvement to multisyste...

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Main Authors: Opladen, Thomas (Author) , Gleich, Florian (Author) , Kozich, Viktor (Author) , Scarpa, Maurizio (Author) , Martinelli, Diego (Author) , Schaefer, Franz (Author) , Jeltsch, Kathrin (Author) , Juliá-Palacios, Natalia (Author) , García-Cazorla, Ángels (Author) , Dionisi-Vici, Carlo (Author) , Kölker, Stefan (Author)
Format: Article (Journal)
Language:English
Published: 18 February 2021
In: Orphanet journal of rare diseases
Year: 2021, Volume: 16, Pages: 1-10
ISSN:1750-1172
DOI:10.1186/s13023-021-01726-3
Online Access:Resolving-System, kostenfrei, Volltext: https://doi.org/10.1186/s13023-021-01726-3
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Author Notes:Thomas Opladen, Florian Gleich, Viktor Kozich, Maurizio Scarpa, Diego Martinelli, Franz Schaefer, Kathrin Jeltsch, Natalia Juliá-Palacios, Ángels García-Cazorla, Carlo Dionisi-Vici and Stefan Kölker
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Summary:Following the broad application of new analytical methods, more and more pathophysiological processes in previously unknown diseases have been elucidated. The spectrum of clinical presentation of rare inherited metabolic diseases (IMDs) is broad and ranges from single organ involvement to multisystemic diseases. With the aim of overcoming the limited knowledge about the natural course, current diagnostic and therapeutic approaches, the project has established the first unified patient registry for IMDs that fully meets the requirements of the European Infrastructure for Rare Diseases (ERDRI).
Item Description:Gesehen am 20.02.2023
Physical Description:Online Resource
ISSN:1750-1172
DOI:10.1186/s13023-021-01726-3

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