Einträge 1 - 25 von insgesamt 38

Poster„Acht auf einen Streich - Achtung Gangliosidosen!“- erste Daten einer patientenorientierten, industrieunabhängigen RegisterstudieLailaArash-KapsSphinCS Lyso – Institut für klinische Forschung bei lysosomalen Speichererkrankungen, Hochheim
VortragA network medicine approach identifies key TCA cycle enzymes as potential therapeutic targets in organic acidemiasZinaPiperUniversity Children’s Research, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
VortragAnalysis of emotional & cognitive resources of patients with hyperphenylalaninemia (HPA)AnneTommHospital for Children and Adolescents, Centre for Pediatric Research Leipzig (CPL), Department of Women and Child Health, University Hospital, University of Leipzig, Germany
VortragaRgus: a versatile tool for variant visualization and advanced prediction score modeling in inherited metabolic diseasesJulianSchröterDivision of Paediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, 69120, Heidelberg, Germany.
VortragChanges in the care of adult PKU patients due to the COVID-19 pandemic: a retrospective review of the past 2 pandemic years.Jan PhilippKöhlerDepartment of Gastroenterology, Hepatology and Infectious Diseases, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Germany
PosterCharacterization of oxidative and mitochondrial stress in X-linked adrenoleukodystrophy fibroblastsMaxi SLüttgensDepartment of Paediatrics and Adolescent Medicine, University Medical Center Göttingen, Germany
VortragCipaglucosidase alfa/miglustat versus alglucosidase alfa/placebo in late-onset Pompe disease (LOPD): PROPEL study subgroup analysesBenediktSchoserFriedrich-Baur-Institut, Neurologische Klinik, Ludwig-Maximilians-Universität München, Munich, Germany
PosterCorneal involvement in glycogen storage disease type IVKonstantinosTsiakasDept Pediatr, Univ Med Center Hamburg-Eppendorf
PosterCorrelation of therapy regimen, biochemical monitoring and in vivo brain Proton MR-Spectroscopy in a patient with GAMT deficiency and normal neurocognitive developmentLara MMartenDepartment of Paediatrics and Adolescent Medicine, University Medical Center Göttingen, Germany
PosterCytosolic phosphoenolpyruvate carboxykinase deficiency: genotypic and phenotypic spectrumMarenGoetzDivision of Child Neurology and Metabolic Disorders, Center for Pediatrics and Adolescent Medicine, University Children’s Hospital Heidelberg, Heidelberg, Germany
PosterEarly diagnosis of neonatal vitamin B12 und cbl G deficiency: arguments for newborn screening in GermanyKonstantinosTsiakasDept Pediatr, Univ Med Ctr Eppendorf, Hamburg, Germany
VortragElevated Plasma Vitamin B 12 in Patients with Hepatic Glycogen Storage DiseasesJuliaHinkelDepartment of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center—University of Freiburg, 79106 Freiburg, Germany
VortragEvaluation of vascular dysfunction and risk of atherosclerosis in patients with glycogen storage disease type IJohannesSchmittDepartment of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany
VortragFeasibility of glycosylation analysis from newborn screening cards: a case seriesJulien H.ParkUniversitätsklinikum Münster, Klinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie
VortragFirst stereotactic application of eladocagene exuparvovec into the putamen of a 3-year-old AADC-patient in GermanyStineChristUniversity Hospital Heidelberg, Children´s hospital, Division of child neurology and metabolic medicine
PosterGlutaric acidemia type-1: Therapeutic strategies in a mouse modelcelinesaadUniversitätsklinikum Heidelberg/Zentrum für Kinder- und Jugendmedizin/ Kinderheilkunde
PosterGlycogen storage disease type Ib, SGLT2 inhibitors and liver transplantation: lessons to learnSimonaMurkoDept Pediatr, Univ Med Center Hamburg-Eppendorf
VortragHeterozygosity for Glycogen Storage Disease Type IIIa might add to the risk for developing type 2 diabetesUlrikeSteuerwaldMedical Department/Pediatrics, National Hospital of the Faroe Islands, Tórshavn
VortragIdiopathic pathological ketotic hypoglycemia and celiac diseaseUlrikeSteuerwaldMedical Department/Pediatrics, National Hospital of the Faroe Islands, Tórshavn
VortragImpact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuriaKarinaGrohmann-HeldCenter for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University Hospital, Heidelberg Germany; University Children's Hospital Greifswald, Division of Pediatrics, Greifswald, Germany
PosterImprovement in left ventricular ejection fraction in patients treated with triheptanoin for long-chain fatty acid oxidation disorders (LC-FAOD)KathrynRayUltragenyx Pharmaceutical Inc., Novato, CA, USA
PosterInteraction between the α-glucosidases, sucrase-isomaltase and maltase-glucoamylase, in human intestinal brush border membranes and its potential impact on disaccharide digestionStephanieTannousStiftung Tierärztliche Hochschule Hannover - Institute of Biochemistry
PosterIntracellular Localization of Glycine N-acyltransferase-like Protein 1 (GLYATL1)Jörn OliverSassBonn-Rhein-Sieg-University of Applied Sciences, Dept. Nat. Sci. & IFGA
PosterMetabolic Neuropathies in Children and Adolescents with LCHAD/MTP deficiency: Insights from In-Vivo Magnetic Resonance NeurographyFabianPreisner1.) Department of Neuroradiology, Heidelberg University Hospital, Heidelberg, Germany
PosterMetabolic profiling and mitochondrial function in hepatic glycogen storage diseases- a fibroblast studyJuleTheimerLaboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany