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Einträge 1 - 25 von insgesamt 54

 Titel Bevorzugte Präsentationsart
A case of glutaric aciduria type III (GA-III)Poster
A spoonful of L-fucose - An efficient therapy for GFUS-CDG, a new glycosylation disorderVortrag
AMPA receptor dysregulation as a possible cause of stiff-baby-syndromePoster
Analysing immune response to enzyme replacement therapy in patients with CLN2 diseaseVortrag
Biallelic variants in GZF1 and VPS45 lead to Larsen syndrome and Congenital Disorders of Glycosylation (CDG)Poster
Case report: Use of glycomacropeptide as a single protein supplement in a pregnancy of a patient with phenylketonuriaPoster
Cataracts and diarrhea of unknown cause: think of the treatable leukodystrophy Cerebrotendinous Xantomatosis (CTX) !Poster
CDG-IIb syndrome: In-depth glycomic characterization of a novel patient using xCGE-LIFVortrag
Challenges facing patients in PKU therapy and experience in support patientsPoster
Cognitive long-term outcome of early diagnosed individuals with glutaric aciduria type 1 – a national prospective study over 20 yearsVortrag
Congenital lactase deficiency: Molecular and cellular analysis of intestinal lactase-phlorizin hydrolase gene variantsVortrag
Dietary therapy of PKU: Sirtuin-activity in glycomacropeptide-based products and classical amino acid mixturesVortrag
Dietary therapy of PKU: Sirtuin-activity in glycomacropeptide-based products and classical amino acid mixturesVortrag
Differences of phenylalanine levels in dried blood spots and in plasma: Erythrocytes as a neglected component for this observationVortrag
Early prediction of disease severity in cytosolic Urea Cycle DisordersVortrag
Effect of ketogenic diet treatment on cellular lipids in murine hippocampal neuronsVortrag
Endothelial Colony Forming Cells as a primary cell model of Fabry diseaseVortrag
Evaluation of the family burden of parents of children with urea cycle defectsVortrag
Flavin adenine dinucleotide (FAD)-dependent oxidoreductase domain-containing protein 1 (FOXRED1) Deficiency: Clinical spectrum and possible treatment optionsVortrag
Frequent sequence variants of human glycine N-acyltransferase (GLYAT) and inborn errors of metabolismVortrag
Health outcomes of infants with vitamin B12 deficiency identified by newborn screening and early treatedVortrag
HPDL-associated neurological disease - current knowledge and further evidence for a mitochondrial disease-like phenotypeVortrag
IEMbase: An online knowledge base and mini-expert tool for the diagnosis of inborn errors of metabolismPoster
Impact of Fabry disease on mitochondrial homeostasis in renal epithelial cellsVortrag
Improved Motor Function in Children With AADC (AADC) Deficiency Treated with Eladocagene Exuparvovec (PTC-AADC): Interim Findings From a Phase 1/2 StudyPoster
 Titel Bevorzugte Präsentationsart