| | Metabolic decompensation of adult IEM patients by COVID-19 vaccination: a case series | 36 | 59 | 60 | | | | 118 |
| | In frame biallelic GCSH duplication in a patient with an attenuated nonketotic hyperglycinemia | 36 | 59 | | | | 63 | 117 |
| | Dietary therapy of PKU: Sirtuin-activity in glycomacropeptide-based products and classical amino acid mixtures | | | | 61 | 62 | 63 | 116 |
| | HPDL-associated neurological disease - current knowledge and further evidence for a mitochondrial disease-like phenotype | | 59 | | | 62 | 63 | 115 |
| | Case report: Use of glycomacropeptide as a single protein supplement in a pregnancy of a patient with phenylketonuria | | 59 | 60 | 61 | | | 114 |
| | Dietary therapy of PKU: Sirtuin-activity in glycomacropeptide-based products and classical amino acid mixtures | | | | 61 | 62 | 63 | 113 |
| | A case of glutaric aciduria type III (GA-III) | 36 | | | 61 | 62 | | 112 |
| | Secondary Glutathione deficiency in hyperinflammatory syndrome | 36 | 59 | 60 | | | | 111 |
| | Pyruvate dehydrogenase E3 binding protein deficiency: positive outcome in a preterm baby treated with ketogenic diet | 36 | 59 | 60 | | | | 110 |
| | Flavin adenine dinucleotide (FAD)-dependent oxidoreductase domain-containing protein 1 (FOXRED1) Deficiency: Clinical spectrum and possible treatment options | | 59 | | 61 | | 63 | 109 |
| | Mechanistic Explanation of the Metabolite Pattern in Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) – Implications for Newborn Screening | 36 | 59 | 60 | | | | 108 |
| | The Austrian register of inherited metabolic disorders – An epidemiologic evaluation of the last 100 years | 36 | 59 | | | 62 | | 107 |
| | Simulation of glutaric acidemia type 1 in COS-7 cells — enzymatic activity and expression | 36 | | 60 | 61 | | | 106 |
| | Cataracts and diarrhea of unknown cause: think of the treatable leukodystrophy Cerebrotendinous Xantomatosis (CTX) ! | 36 | 59 | | | 62 | | 105 |
| | Congenital lactase deficiency: Molecular and cellular analysis of intestinal lactase-phlorizin hydrolase gene variants | | | | 61 | 62 | 63 | 104 |
| | 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 | 36 | | 60 | | | 63 | 103 |
| | SLC35A2-CDG can also be associated with a mild clinical phenotype in combination with autism spectrum disorders | 36 | | 60 | 61 | | | 102 |
| | Intraventricular cerliponase alfa as standard of care in CLN2 disease: 4-year update from an independent ongoing observational study | 36 | 59 | | | | 63 | 101 |
| | Analysing immune response to enzyme replacement therapy in patients with CLN2 disease | 36 | | | 61 | 62 | | 100 |
| | Endothelial Colony Forming Cells as a primary cell model of Fabry disease | | 59 | | | 62 | 63 | 99 |
| | Evaluation of the family burden of parents of children with urea cycle defects | | | | 61 | 62 | 63 | 98 |
| | AMPA receptor dysregulation as a possible cause of stiff-baby-syndrome | | | 60 | 61 | 62 | | 97 |
| | Biallelic variants in GZF1 and VPS45 lead to Larsen syndrome and Congenital Disorders of Glycosylation (CDG) | | | 60 | 61 | 62 | | 96 |
| | Lentiviral Haematopoietic Stem and Progenitor Cell Gene Therapy for Metachromatic Leukodystrophy (MLD): Clinical Outcomes from 38 Patients | 36 | 59 | 60 | | | | 95 |
| | 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 | 36 | 59 | 60 | | | | 94 |
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