47
Publications
2.2K
Citations
29
H-Index
1998
Active since
Skadi Beblo is an author at University Hospital Leipzig specializing in medicine, nutrition, and physiology.
Top concepts
MedicineNutritionPhysiologyMetabolismHealthClinical NutritionPediatricsPublic HealthHuman NutritionGynecology
Publications per year
1998–2024
47
47
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich et al. · Genome Medicine · 2022 · 184 citations · Full text
Newborn screening: A disease‐changing intervention for glutaric aciduria type 1
Nikolas Boy, Katharina Mengler, Eva Thimm et al. · Annals of Neurology · 2018 · 104 citations · Full text
Propionic acidemia: neonatal versus selective metabolic screening
Sarah C. Grünert, S. Müllerleile, L. de Silva et al. · Journal of Inherited Metabolic Disease · 2011 · 90 citations · Full text
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