Showing results (41-50 of 63) with videos related to
Sort By:
Pageof 7
Journal of Inherited Metabolic Disease|December 9, 2015
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic optionsChristian Staufner, Martin Lindner, Carlo Dionisi-Vici, et al.American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons|June 26, 2025
Infectious disease surveillance and management in clinical xenotransplantation: Experience with the first human porcine kidney transplantJay A Fishman, Joseph El Khoury, Tatsuo Kawai, et al.Molecular Genetics and Metabolism|November 25, 2015
In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesisThomas Opladen, Martin Lindner, Anibh M Das, et al.Pediatrics|October 14, 2020
Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn ScreeningUlrike Mütze, Sven F Garbade, Gwendolyn Gramer, et al.Journal of Inherited Metabolic Disease|June 8, 2026
Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and SwitzerlandSvenja Scharre, Annette L Hess, Florian Gleich, et al.Journal of Inherited Metabolic Disease|April 2, 2024
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinuriasAnna T Reischl-Hajiabadi, Elena Schnabel, Florian Gleich, et al.Annals of Neurology|April 18, 2018
Newborn screening: A disease-changing intervention for glutaric aciduria type 1Nikolas Boy, Katharina Mengler, Eva Thimm, et al.Journal of Inherited Metabolic Disease|July 10, 2023
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatmentUlrike Mütze, Lucy Henze, Julian Schröter, et al.Scientific Reports|September 30, 2021
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up studyE M Charlotte Märtner, Eva Thimm, Philipp Guder, et al.Pediatrics|July 3, 2024
Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn ScreeningKatharina Mengler, Sven F Garbade, Florian Gleich, et al.Pageof 7