D. Moeslinger

Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry.

O. Bodamer, S. Stockler-Ipsiroglu, C. Jakobs, 2009, Molecular genetics and metabolism.

Oral β-Hydroxybutyrate Supplementation in Two Patients with Hyperinsulinemic Hypoglycemia: Monitoring of β-Hydroxybutyrate Levels in Blood and Cerebrospinal Fluid, and in the Brain by In Vivo Magnetic Resonance Spectroscopy

E. Moser, V. Mlynárik, S. Gruber, 2002, Pediatric Research.

Cultural aspects in the management of inborn errors of metabolism

S. Stockler, O. Ipsiroglu, M. Herle, 2012, Journal of Inherited Metabolic Disease.

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

H. Mandel, M. Hochuli, J. Jordan, 2014, Orphanet Journal of Rare Diseases.

Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria.

S. Stockler-Ipsiroglu, J. Häberle, K. Engel, 2010, Molecular genetics and metabolism.

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

Robert W. Taylor, H. Prokisch, M. Simpson, 2015, Brain : a journal of neurology.

Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria

J. Häberle, V. Klaus, K. Engel, 2012, Journal of Inherited Metabolic Disease.

Risk factors for impaired health-related quality of life in a cohort of pediatric patients with inborn metabolic diseases

S. Siegert, M. Herle, V. Konstantopoulou, 2021, European Journal of Pediatrics.