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Einträge 1 - 14 von insgesamt 14

 Code  Titel Reviewer ID1 Reviewer ID2 Eintrags-ID
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 metabolism75
Differences of phenylalanine levels in dried blood spots and in plasma: Erythrocytes as a neglected component for this observation74
Reducing the false positive rate of neonatal screening for isovaleric aciduria by a simple second-tier method73
Metachromatic leukodystrophy presenting with acute disseminated encephalomyelitis72
In-depth glycomic characterization of a novel CDG-IIb patient using xCGE-LIF71
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 Trials70
Improved Motor Function in Children With AADC Deficiency Treated With Eladocagene Exuparvovec (PTC-AADC): Compassionate Use Study69
Improved Motor Function in Children With AADC (AADC) Deficiency Treated with Eladocagene Exuparvovec (PTC-AADC): Interim Findings From a Phase 1/2 Study68
Improved Motor Function in Children With AADC Deficiency Treated with Eladocagene Exuparvovec (PTC-AADC): Interim Findings from a Phase 2 Trial67
Cognitive long-term outcome of early diagnosed individuals with glutaric aciduria type 1 – a national prospective study over 20 years66
Challenges facing patients in PKU therapy and experience in support patients65
Never too old for an inborn metabolic disorder64
neuer Abstract63
 Code  Titel Reviewer ID1 Reviewer ID2 Eintrags-ID