Zuteilung

Einträge 1 - 25 von insgesamt 54

ArtTitelVornameNachnameInstitut/Klinik/Einrichtung
PosterA case of glutaric aciduria type III (GA-III)MathiasWoidyChildren's Hospital, University Medical Center Hamburg, Germany
VortragA spoonful of L-fucose - An efficient therapy for GFUS-CDG, a new glycosylation disorderRenéFeichtingerUniversity Children’s Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria
PosterAMPA receptor dysregulation as a possible cause of stiff-baby-syndromeNadjaKaiserDepartment of Pediatric Neurology, University Children’s Hospital, Tuebingen, Germany
VortragAnalysing immune response to enzyme replacement therapy in patients with CLN2 diseaseLena MarieWestermannDepartment of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
PosterBiallelic variants in GZF1 and VPS45 lead to Larsen syndrome and Congenital Disorders of Glycosylation (CDG)KristinaFalkensteinZentrum für Kinder- und Jugendmedizin, Kinderheilkunde I, Im Neuenheimer Feld 669, 69120 Heidelberg
PosterCase report: Use of glycomacropeptide as a single protein supplement in a pregnancy of a patient with phenylketonuriaDinahLierDepartment of Pediatrics and Adolescent Medicine, Kreiskliniken Reutlingen, Germany
PosterCataracts and diarrhea of unknown cause: think of the treatable leukodystrophy Cerebrotendinous Xantomatosis (CTX) !IlenaOppermannUniversity Children’s Hospital, University Medical Center Hamburg-Eppendorf
VortragCDG-IIb syndrome: In-depth glycomic characterization of a novel patient using xCGE-LIFJuliaBeimdiekInstitute of Clinical Biochemistry, Hannover Medical School
PosterChallenges facing patients in PKU therapy and experience in support patientsAlexandravon Hopffgartenwww.iqvia.com
VortragCognitive long-term outcome of early diagnosed individuals with glutaric aciduria type 1 – a national prospective study over 20 yearsEva Marie CharlotteMaertnerDivision of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Germany
VortragCongenital lactase deficiency: Molecular and cellular analysis of intestinal lactase-phlorizin hydrolase gene variantsLara M.Marten1. Department of Biochemistry, University of Veterinary Medicine Hannover, Hannover, Germany; 2. Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany
VortragDietary therapy of PKU: Sirtuin-activity in glycomacropeptide-based products and classical amino acid mixturesLauraStahmerPädiatrische Nieren-, Leber- und Stoffwechselerkrankungen
VortragDietary therapy of PKU: Sirtuin-activity in glycomacropeptide-based products and classical amino acid mixturesLauraStahmerMedizinische Hochschule Hannover
VortragDifferences of phenylalanine levels in dried blood spots and in plasma: Erythrocytes as a neglected component for this observationDorotheaHaasDivision of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany
VortragEarly prediction of disease severity in cytosolic Urea Cycle DisordersMatthiasZielonkaCenter for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany
VortragEffect of ketogenic diet treatment on cellular lipids in murine hippocampal neuronsParthaDabkeKlinik für Pädiatrische Nieren, Leber und Stoffwechselerkrankungen, Medizinische Hochschule Hannover
VortragEndothelial Colony Forming Cells as a primary cell model of Fabry diseaseKatrin AndreaDohrMedical University of Graz/Department of Paediatrics and Adolescent Medicine/Research Unit of Analytical Mass Spectrometry, Cell Biology and Biochemistry of Inborn Errors of Metabolism
VortragEvaluation of the family burden of parents of children with urea cycle defectsMaraScharpingDepartment of Pediatrics, Division for Neuropediatrics and Metabolic Medicine, University of Heidelberg, Germany
VortragFlavin adenine dinucleotide (FAD)-dependent oxidoreductase domain-containing protein 1 (FOXRED1) Deficiency: Clinical spectrum and possible treatment optionsVanessaKockDepartment of Pediatrics and Adolescent Medicine, Kreiskliniken Reutlingen, Germany
VortragFrequent sequence variants of human glycine N-acyltransferase (GLYAT) and inborn errors of metabolismDanielSchulkeResearch Group Inborn Errors of Metabolism, Department of Natural Sciences, Bonn-Rhein-Sieg University of Applied Sciences, Rheinbach, Germany
VortragHealth outcomes of infants with vitamin B12 deficiency identified by newborn screening and early treatedUlrikeMützeDivision of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany
VortragHPDL-associated neurological disease - current knowledge and further evidence for a mitochondrial disease-like phenotypeRalf A.HusainDepartment of Neuropediatrics, University Hospital Jena, Jena, Germany
PosterIEMbase: An online knowledge base and mini-expert tool for the diagnosis of inborn errors of metabolismBrittanyHewitsonBC Children’s Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada
VortragImpact of Fabry disease on mitochondrial homeostasis in renal epithelial cellsAnkeSchumannDepartment of General Paediatrics, Adolescent Medicine and Neonatology, Medical Center- University of Freiburg, Faculty of Medicine, Freiburg, Germany
PosterImproved Motor Function in Children With AADC (AADC) Deficiency Treated with Eladocagene Exuparvovec (PTC-AADC): Interim Findings From a Phase 1/2 StudyPaul Wuh-LiangHwuNational Taiwan University Hospital, Taipei, Taiwan
ArtTitelVornameNachnameInstitut/Klinik/Einrichtung