MetabERN

Recent papers from MetabERN

1. Tyrosine supplementation with high-protein diet as a therapeutic strategy for YARS1 deficiencyGenetics in Medicine · 2026
2. Epidemiology and natural history of POLG disease in Norway: a nationwide cohort studyAnnals of Clinical and Translational Neurology · 2024
3. Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental DelayPEDIATRICS · 2024
4. Clinical Presentation of Inherited Metabolic Diseases in Newborns Hospitalized in an Intensive Care UnitEwa Plewko · 2023
5. The hypergonadotropic hypogonadism conundrum of classic galactosemiaHuman Reproduction Update · 2022
6. Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease SeverityMovement Disorders · 2020
7. Parkinson’s Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three PedigreesJournal of Parkinson s Disease · 2019