| | A case of glutaric aciduria type III (GA-III) | | | | Mathias Woidy |
| | A spoonful of L-fucose - An efficient therapy for GFUS-CDG, a new glycosylation disorder | | | | Saskia Wortmann |
| | AMPA receptor dysregulation as a possible cause of stiff-baby-syndrome | | | | Nadja Kaiser |
| | Analysing immune response to enzyme replacement therapy in patients with CLN2 disease | | | | Lena Marie Westermann |
| | Biallelic variants in GZF1 and VPS45 lead to Larsen syndrome and Congenital Disorders of Glycosylation (CDG) | | | | Kristina Falkenstein |
| | Case report: Use of glycomacropeptide as a single protein supplement in a pregnancy of a patient with phenylketonuria | | | | Vanessa Dr. Kock |
| | Cataracts and diarrhea of unknown cause: think of the treatable leukodystrophy Cerebrotendinous Xantomatosis (CTX) ! | | | | Annette Bley |
| | CDG-IIb syndrome: In-depth glycomic characterization of a novel patient using xCGE-LIF | | | | Julia Beimdiek |
| | Challenges facing patients in PKU therapy and experience in support patients | | | | Alexandra von Hopffgarten |
| | Cognitive long-term outcome of early diagnosed individuals with glutaric aciduria type 1 – a national prospective study over 20 years | | | | Eva Marie Charlotte Märtner |
| | Congenital lactase deficiency: Molecular and cellular analysis of intestinal lactase-phlorizin hydrolase gene variants | | | | Lara Marten |
| | Dietary therapy of PKU: Sirtuin-activity in glycomacropeptide-based products and classical amino acid mixtures | | | | Laura Stahmer |
| | Dietary therapy of PKU: Sirtuin-activity in glycomacropeptide-based products and classical amino acid mixtures | | | | Anibh Martin Das |
| | Differences of phenylalanine levels in dried blood spots and in plasma: Erythrocytes as a neglected component for this observation | | | | Dorothea Haas |
| | Early prediction of disease severity in cytosolic Urea Cycle Disorders | | | | Matthias Zielonka |
| | Effect of ketogenic diet treatment on cellular lipids in murine hippocampal neurons | | | | Partha Dabke |
| | Endothelial Colony Forming Cells as a primary cell model of Fabry disease | | | | Silvija Tokic |
| | Evaluation of the family burden of parents of children with urea cycle defects | | | | Mara Scharping |
| | Flavin adenine dinucleotide (FAD)-dependent oxidoreductase domain-containing protein 1 (FOXRED1) Deficiency: Clinical spectrum and possible treatment options | | | | Vanessa Dr. Kock |
| | Frequent sequence variants of human glycine N-acyltransferase (GLYAT) and inborn errors of metabolism | | | | Daniel Schulke |
| | Health outcomes of infants with vitamin B12 deficiency identified by newborn screening and early treated | | | | Ulrike Mütze |
| | HPDL-associated neurological disease - current knowledge and further evidence for a mitochondrial disease-like phenotype | | | | Ralf Husain |
| | IEMbase: An online knowledge base and mini-expert tool for the diagnosis of inborn errors of metabolism | | | | Nenad Blau |
| | Impact of Fabry disease on mitochondrial homeostasis in renal epithelial cells | | | | Anke Schumann |
| | Improved Motor Function in Children With AADC (AADC) Deficiency Treated with Eladocagene Exuparvovec (PTC-AADC): Interim Findings From a Phase 1/2 Study | | | | Nicolai Marroquin |
DE 
EN 