Sabine Scholl-Burgi
Innsbruck, Austria
Last Updated: 09/26/2026
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Found 128 publications
GenKom-PKU: Improving Patient-Provider Communication in Phenylketonuria.
Journal: Studies in health technology and informatics
Published: May 12, 2026
Biomarkers and surrogate endpoints for drug development in propionic acidemia.
Journal: Molecular genetics and metabolism
Published: April 16, 2026
Heritability of Long-Term Complications in Classic Galactosemia.
Journal: Journal of inherited metabolic disease
Published: December 19, 2025
Transition and transfer from pediatrics to adult medicine
Journal: Wiener medizinische Wochenschrift (1946)
Published: November 14, 2025
Characterization of Tiroler Bergkäse PDO cheese: A multimethodological approach.
Journal: Food chemistry. Molecular sciences
Published: August 12, 2025
A suspicion index tool to aid the diagnosis and treatment of ASMD.
Journal: Orphanet journal of rare diseases
Published: July 22, 2025
Meta-analysis of shotgun sequencing of gut microbiota in obese children with MASLD or MASH.
Journal: Gut microbes
Published: May 21, 2025
Telemedicine for Ketogenic Dietary Treatment in Epilepsy and Inherited Metabolic Diseases: Survey of Health Care Professionals.
Journal: Studies in health technology and informatics
Published: April 24, 2025
Enzyme replacement therapy during pregnancy and breastfeeding in late-onset Pompe disease.
Journal: International breastfeeding journal
Published: April 07, 2025
TXNIP mediates LAT1/SLC7A5 endocytosis to limit amino acid uptake in cells entering quiescence.
Journal: The EMBO journal
Published: March 10, 2025
Kidney involvement in glycogen storage disease type I: Current knowledge and key challenges.
Journal: Molecular genetics and metabolism
Published: January 15, 2025
Treatment of an Opposing Metabolic Situation: GLUT1-Deficiency Syndrome and Type 1 Diabetes.
Journal: JIMD reports
Published: December 18, 2024
Last Updated: 09/26/2026