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JIMD Reports|May 6, 2015
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn ScreeningGwendolyn Gramer, Gisela Haege, Junmin Fang-Hoffmann, et al.Orphanet Journal of Rare Diseases|December 24, 2015
A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type INikolas Boy, Jana Heringer, Gisela Haege, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 13, 2018
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuriaSven F Garbade, Nan Shen, Nastassja Himmelreich, et al.Journal of Inherited Metabolic Disease|May 4, 2012
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening resultJ Gerard Loeber, Peter Burgard, Martina C Cornel, et al.Journal of Inherited Metabolic Disease|May 10, 2014
Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patientsSven F Garbade, Cheryl R Greenberg, Mübeccel Demirkol, et al.Pediatric Nephrology (Berlin, Germany)|July 18, 2023
Resource use and costs of transitioning from pediatric to adult care for patients with chronic kidney diseaseDaniela Choukair, Susanne Rieger, Dirk Bethe, et al.Clinical Endocrinology|July 9, 2024
Resource use and costs of transitioning from paediatric to adult care for patients with chronic endocrine diseaseDaniela Choukair, Janna Mittnacht, Dorothea Treiber, et al.Gene|January 21, 2014
Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSFDorothea Haas, Hongying Gan-Schreier, Claus-Dieter Langhans, et al.Biochimica Et Biophysica Acta|January 7, 2015
Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type ISven W Sauer, Silvana Opp, Shoko Komatsuzaki, et al.JIMD Reports|February 22, 2015
Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD ConsortiumStefan Kölker, Dries Dobbelaere, Johannes Häberle, et al.Pageof 8