Sabine Scholl‐Buergi

The natural history of classic galactosemia: lessons from the GalNet registry

M. Estela Rubio‐Gozalbo, Minela Haskovic, Annet M. Bosch et al. · Orphanet Journal of Rare Diseases · 2019 · 141 citations · Full text

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies

Thatjana Gardeitchik, Miski Mohamed, Benedetta Ruzzenente et al. · The American Journal of Human Genetics · 2018 · 83 citations · Full text

Bi-allelic Mutations, Mitochondrial Biogenesis, Mitochondrial Function +6

Loss of CD4+ T cell-intrinsic arginase 1 accelerates Th1 response kinetics and reduces lung pathology during influenza infection

Erin E. West, Nicolas S. Merle, Marcin M. Kamiński et al. · Immunity · 2023 · 46 citations · Full text

Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery

Judith Hagenbuchner, Sabine Scholl‐Buergi, Daniela Karall et al. · Scientific Reports · 2018 · 36 citations · Full text

A novel therapeutic approach for <i>LPIN1</i> mutation–associated rhabdomyolysis—The Austrian experience

Karin Pichler, Sabine Scholl‐Buergi, Robert Birnbacher et al. · Muscle & Nerve · 2015 · 31 citations