| Metabolic decompensation of adult IEM patients by COVID-19 vaccination: a case series |
| In frame biallelic GCSH duplication in a patient with an attenuated nonketotic hyperglycinemia |
| Dietary therapy of PKU: Sirtuin-activity in glycomacropeptide-based products and classical amino acid mixtures |
| HPDL-associated neurological disease - current knowledge and further evidence for a mitochondrial disease-like phenotype |
| Case report: Use of glycomacropeptide as a single protein supplement in a pregnancy of a patient with phenylketonuria |
| Dietary therapy of PKU: Sirtuin-activity in glycomacropeptide-based products and classical amino acid mixtures |
| A case of glutaric aciduria type III (GA-III) |
| Secondary Glutathione deficiency in hyperinflammatory syndrome |
| Pyruvate dehydrogenase E3 binding protein deficiency: positive outcome in a preterm baby treated with ketogenic diet |
| Flavin adenine dinucleotide (FAD)-dependent oxidoreductase domain-containing protein 1 (FOXRED1) Deficiency: Clinical spectrum and possible treatment options |
| Mechanistic Explanation of the Metabolite Pattern in Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) – Implications for Newborn Screening |
| The Austrian register of inherited metabolic disorders – An epidemiologic evaluation of the last 100 years |
| Simulation of glutaric acidemia type 1 in COS-7 cells — enzymatic activity and expression |
| Cataracts and diarrhea of unknown cause: think of the treatable leukodystrophy Cerebrotendinous Xantomatosis (CTX) ! |
| Congenital lactase deficiency: Molecular and cellular analysis of intestinal lactase-phlorizin hydrolase gene variants |
| Missense variant c.1460T>C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West-Syndrome and hypsarrhythmia |
| SLC35A2-CDG can also be associated with a mild clinical phenotype in combination with autism spectrum disorders |
| Intraventricular cerliponase alfa as standard of care in CLN2 disease: 4-year update from an independent ongoing observational study |
| Analysing immune response to enzyme replacement therapy in patients with CLN2 disease |
| Endothelial Colony Forming Cells as a primary cell model of Fabry disease |
| Evaluation of the family burden of parents of children with urea cycle defects |
| AMPA receptor dysregulation as a possible cause of stiff-baby-syndrome |
| Biallelic variants in GZF1 and VPS45 lead to Larsen syndrome and Congenital Disorders of Glycosylation (CDG) |
| Lentiviral Haematopoietic Stem and Progenitor Cell Gene Therapy for Metachromatic Leukodystrophy (MLD): Clinical Outcomes from 38 Patients |
| Persistent effect of arimoclomol in patients with Niemann-Pick disease type C: 24-month results from an open-label extension of a pivotal Phase 2/3 study |
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