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1 Ergebnisse
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Phenotypic diversity, disease progression, and pathogenicit..:
Brennenstuhl, Heiko
;
Nashawi, Mohammed
;
Schröter, Julian
...
Journal of Inherited Metabolic Disease. 44 (2021) 5 - p. 1272-1287 , 2021
Link:
https://doi.org/10.1002/jimd.12412
RT Journal T1
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_jimd.12412&Exemplar=1&LAN=DE A1 Brennenstuhl, Heiko A1 Nashawi, Mohammed A1 Schröter, Julian A1 Baronio, Federico A1 Beedgen, Lars A1 Gleich, Florian A1 Jeltsch, Kathrin A1 von Landenberg, Christina A1 Martini, Silvia A1 Simon, Anna A1 Thiel, Christian A1 Tsiakas, Konstantinos A1 Opladen, Thomas A1 Kölker, Stefan A1 Hoffmann, Georg F. A1 Haas, Dorothea A1 Unified Registry for Inherited Metabolic Disorders (U‐IMD) Consortium and the European Registry for Hereditary Metabolic Disorders (MetabERN) PB Wiley YR 2021 SN 0141-8955 SN 1573-2665 JF Journal of Inherited Metabolic Disease VO 44 IS 5 SP 1272 OP 1287 LK http://dx.doi.org/https://doi.org/10.1002/jimd.12412 DO https://doi.org/10.1002/jimd.12412 SF ELIB - SuUB Bremen
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