Sabine Scholl‐Bürgi
Innsbruck Medical University(AT)Universität Innsbruck(AT)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Diet and metabolism studies, Mitochondrial Function and Pathology, Amino Acid Enzymes and Metabolism, Folate and B Vitamins Research
Most-Cited Works
- → Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia(2014)703 cited
- → Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome(2007)445 cited
- → The Genetic Landscape and Epidemiology of Phenylketonuria(2020)351 cited
- → Chronic Immune Stimulation Correlates with Reduced Phenylalanine Turnover(2008)269 cited
- → Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision(2021)258 cited
- → Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature(2011)254 cited
- → The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation