Publications of U-IMD consortium

The first publication introduces the registry, network and summarizes progress

Opladen T, Gleich F, Kozich V, Scarpa M, Martinelli D, Schaefer F, Jeltsch K, Juliá-Palacios N, García-Cazorla Á, Dionisi-Vici C, Kölker S.

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

Orphanet J Rare Dis. 2021 Feb 18;16(1):95.


The second publication shows utility of the U-IMD registry for analysis of natural history of mevalonate kinase deficiency

Brennenstuhl H, Nashawi M, Schröter J, Baronio F, Beedgen L, Gleich F, Jeltsch K, von Landenberg C, Martini S, Simon A, Thiel C, Tsiakas K, Opladen T, Kölker S, Hoffmann GF, Haas D; Additional individual contributors of the Unified Registry for Inherited Metabolic Disorders (U-IMD) Consortium and the European Registry for Hereditary Metabolic Disorders (MetabERN).

Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonicaciduria.

J Inherit Metab Dis. 2021 Jun 18. doi: 10.1002/jimd.12412. Epub ahead of print.


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