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Journal of Inherited Metabolic Disease|April 6, 2026
A Novel Multimodal LC-MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSFStine Christ, Julia Rossmann, Sylvia Richter, et al.
Journal of Clinical Medicine|April 23, 2022
Rapid Campimetry-A Novel Screening Method for Glaucoma DiagnosisFabian Müller, Khaldoon O Al-Nosairy, Francie H Kramer, et al.
American Journal of Medical Genetics. Part A|December 22, 2023
Long-term use of everolimus for refractory arrhythmia in a child with tuberous sclerosis complexChristoph Hofmann, Steffen Syrbe, Joachim Hebe, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 21, 2024
Impact of early diagnosis, disease variant, and quality of care on the neurocognitive outcome in maple syrup urine disease: A meta-analysisSvenja Scharre, Katharina Mengler, Elena Schnabel, et al.
Journal of Pediatric Gastroenterology and Nutrition|August 18, 2020
Optimized Trientine-dihydrochloride Therapy in Pediatric Patients With Wilson Disease: Is Weight-based Dosing Justified?Toni Mayr, Peter Ferenci, Markus Weiler, et al.
Scientific Reports|September 25, 2025
Effects of anserine on oxidative stress and on cell barrier integrity in methylmalonic aciduriaFelix Köpfer, Maria Bartosova Medvid, Thomas Fleming, et al.
Medical Teacher|September 6, 2013
Learner preferences regarding integrating, sequencing and aligning virtual patients with other activities in the undergraduate medical curriculum: A focus group studySören Huwendiek, Cecilia Duncker, Friedrich Reichert, et al.
Molecular Genetics and Metabolism|July 15, 2022
Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literatureNastassja Himmelreich, Bianca Dimitrov, Matthias Zielonka, et al.
Molecular and Cellular Endocrinology|November 9, 2011
Does the aromatic L-amino acid decarboxylase contribute to thyronamine biosynthesis?Carolin S Hoefig, Kostja Renko, Susanne Piehl, et al.
Molecular Genetics and Metabolism|December 11, 2012
Visual functions in phenylketonuria-evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypothesesGwendolyn Gramer, Birgit Förl, Christina Springer, et al.
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