Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients

Hammann, Nicole; Staufner, Christian; Schlieben, Lea Dewi; Dezsofi-Gottl, Antal; Feichtinger, Rene G.; Haeberle, Johannes; Junge, Norman; Konstantopoulou, Vassiliki; Kopajtich, Robert; Mclin, Valerie; Rymen, Daisy; Slavetinsky, Christoph; Sturm, Ekkehard; Mayr, Johannes A.; Wagner, Matias; Koelker, Stefan; Prokisch, Holger; Hoffmann, Georg F.; Lenz, Dominic

Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients

Author:

Hammann, Nicole; Staufner, Christian; Schlieben, Lea Dewi; Dezsofi-Gottl, Antal; Feichtinger, Rene G.; Haeberle, Johannes; Junge, Norman; Konstantopoulou, Vassiliki; Kopajtich, Robert; Mclin, Valerie; Rymen, Daisy; Slavetinsky, Christoph; Sturm, Ekkehard; Mayr, Johannes A.; Wagner, Matias; Koelker, Stefan; Prokisch, Holger; Hoffmann, Georg F.; Lenz, Dominic

Tübinger Autor(en):

Sturm, Ekkehard
Slavetinsky, Christoph Josef

Published in:

Journal of Inherited Metabolic Disease (2025), Bd. 48 (3), Article e70035

Verlagsangabe:

Hoboken : Wiley

Language:

English

Full text:

http://dx.doi.org/10.1002/jimd.70035

ISSN:

0141-8955