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

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

Abstract Background 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 invol...

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Bibliographic Details
Main Authors: Thomas Opladen, Florian Gleich, Viktor Kozich, Maurizio Scarpa, Diego Martinelli, Franz Schaefer, Kathrin Jeltsch, Natalia Juliá-Palacios, Ángels García-Cazorla, Carlo Dionisi-Vici, Stefan Kölker
Format: Article
Language:English
Published: BMC 2021-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Unified european registry for inherited metabolic diseases
U-IMD
Inherited metabolic diseases
European infrastructure for rare diseases
ERDRI
European reference network for rare hereditary metabolic disorders
Online Access:https://doi.org/10.1186/s13023-021-01726-3

Internet

https://doi.org/10.1186/s13023-021-01726-3

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