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Journal of Inherited Metabolic Disease|February 12, 2019
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseasesRoland Posset, Sven F Garbade, Nikolas Boy, et al.Journal of Medical Virology|December 3, 2024
Elevated Soluble ACE2 Activity in Children and Adults After SARS-CoV-2 Exposure Irrespective of Laboratory-Confirmed InfectionMaximilian Stich, Vladimir Gonçalves Magalhães, Friederike Bürger, et al.Journal of Pediatric Gastroenterology and Nutrition|March 17, 2023
Etiology and Outcome of Adult and Pediatric Acute Liver Failure in EuropeDominic Lenz, Marianne Hørby Jørgensen, Deirdre Kelly, 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.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 28, 2026
Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registryJulian Teinert, Florian Gleich, Viktor Kozich, 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.Journal of Inherited Metabolic Disease|March 19, 2024
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiencyNatalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, 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.Journal of Inherited Metabolic Disease|January 26, 2021
Newborn screening and disease variants predict neurological outcome in isovaleric aciduriaUlrike Mütze, Lucy Henze, Florian Gleich, et al.Pageof 13