Sandra Eggimann

Deficiency of <scp>ECHS</scp>1 causes mitochondrial encephalopathy with cardiac involvement

Tobias B. Haack, Christopher B. Jackson, Kei Murayama et al. · Annals of Clinical and Translational Neurology · 2015 · 116 citations · Full text

Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria

Liyan Hu, Amit V. Pandey, Cécile Balmer et al. · Journal of Inherited Metabolic Disease · 2015 · 18 citations · Full text

Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of <i>in</i>‐<i>vitro</i> enzyme activity with clinical phenotype in argininosuccinic aciduria

Katharina Engel, Jean‐Marc Vuissoz, Sandra Eggimann et al. · Journal of Inherited Metabolic Disease · 2011 · 15 citations · Full text

Understanding the Role of Argininosuccinate Lyase Transcript Variants in the Clinical and Biochemical Variability of the Urea Cycle Disorder Argininosuccinic Aciduria

Liyan Hu, Amit V. Pandey, Sandra Eggimann et al. · Journal of Biological Chemistry · 2013 · 12 citations · Full text