Area of research
Clinical Biochemistry · Molecular Biology
Research interest
Research interests include Medicine, Short stature, Disease, Liver disease, Phenotype, and Epilepsy.
Mitochondrial dysfunction associated with TANGO2 deficiency
Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
A comparative analysis of costs of single and dual rapid HIV and syphilis diagnostics: results from a randomised controlled trial in Colombia
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts