Tissue-specific strategies of the very-long chain acyl-CoA dehydrogenase-deficient (VLCAD-/-) mouse to compensate a defective fatty acid β-oxidation.

por Sara Tucci, Diran Herebian, Marga Sturm, Annette Seibt, Ute Spiekerkoetter
Publicado 2012

Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants.

por Marga Sturm, Diran Herebian, Martina Mueller, Maurice D Laryea, Ute Spiekerkoetter
Publicado 2012

Evidence for a Genotype–Phenotype Correlation in Patients with Pathogenic <i>GLUT2</i> (<i>SLC2A2</i>) Variants

por Sarah C. Grünert, Anke Schumann, Federico Baronio, Konstantinos Tsiakas, Simona Murko, Ute Spiekerkoetter, René Santer
Publicado 2021

Author Correction: Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

por Yurong Cheng, Pascal Schlosser, Johannes Hertel, Peggy Sekula, Peter J. Oefner, Ute Spiekerkoetter, Johanna Mielke, Daniel F. Freitag, Miriam Schmidts, GCKD Investigators, Florian Kronenberg, Kai-Uwe Eckardt, Ines Thiele, Yong Li, Anna Köttgen
Publicado 2021

Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

por Yurong Cheng, Pascal Schlosser, Johannes Hertel, Peggy Sekula, Peter J. Oefner, Ute Spiekerkoetter, Johanna Mielke, Daniel F. Freitag, Miriam Schmidts, GCKD Investigators, Florian Kronenberg, Kai-Uwe Eckardt, Ines Thiele, Yong Li, Anna Köttgen
Publicado 2021