| | Role of reactive oxygen species and protein stability of GTP cyclohydrolase in pathophysiology of Dopa-responsive Dystonia (DRD) | | | 76 |
| | IEMbase: An online knowledge base and mini-expert tool for the diagnosis of inborn errors of metabolism | | | 75 |
| | Differences of phenylalanine levels in dried blood spots and in plasma: Erythrocytes as a neglected component for this observation | | | 74 |
| | Reducing the false positive rate of neonatal screening for isovaleric aciduria by a simple second-tier method | | | 73 |
| | Metachromatic leukodystrophy presenting with acute disseminated encephalomyelitis | | | 72 |
| | In-depth glycomic characterization of a novel CDG-IIb patient using xCGE-LIF | | | 71 |
| | Reductions in Oculogyric Crisis Duration and Frequency in Children With Aromatic L-Amino Acid Decarboxylase Deficiency Treated With Eladocagene Exuparvovec Gene Therapy: Results From 3 Clinical Trials | | | 70 |
| | Improved Motor Function in Children With AADC Deficiency Treated With Eladocagene Exuparvovec (PTC-AADC): Compassionate Use Study | | | 69 |
| | Improved Motor Function in Children With AADC (AADC) Deficiency Treated with Eladocagene Exuparvovec (PTC-AADC): Interim Findings From a Phase 1/2 Study | | | 68 |
| | Improved Motor Function in Children With AADC Deficiency Treated with Eladocagene Exuparvovec (PTC-AADC): Interim Findings from a Phase 2 Trial | | | 67 |
| | Cognitive long-term outcome of early diagnosed individuals with glutaric aciduria type 1 – a national prospective study over 20 years | | | 66 |
| | Challenges facing patients in PKU therapy and experience in support patients | | | 65 |
| | Never too old for an inborn metabolic disorder | | | 64 |
| | neuer Abstract | | | 63 |
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