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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 7, 2018
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort studyYannay Khaikin, Sarah Sidky, Jose Abdenur, et al.Cancers|November 27, 2025
Design and Interim Recruitment Outcomes of a Multi-Modal, Multi-Level Patient Navigation Intervention for Lung Cancer Screening in the Southeast U.SMarvella E Ford, Louise Henderson, Alison Brenner, et al.Journal of Inherited Metabolic Disease|June 20, 2013
Cross-sectional observational study of 208 patients with non-classical urea cycle disordersCorinne M Rüegger, Martin Lindner, Diana Ballhausen, et al.Journal of Inherited Metabolic Disease|December 15, 2017
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variantsAna Pop, Monique Williams, Eduard A Struys, et al.Pediatric Research|April 28, 2006
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiencyStefan Kölker, Sven F Garbade, Cheryl R Greenberg, et al.Journal of Inherited Metabolic Disease|February 15, 2019
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomesJeannette C Bleeker, Irene L Kok, Sacha Ferdinandusse, et al.American Journal of Human Genetics|June 18, 2019
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal AbnormalitiesMargot A Cousin, Erin Conboy, Jian-She Wang, et al.Journal of Inherited Metabolic Disease|October 11, 2022
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revisionNikolas Boy, Chris Mühlhausen, Esther M Maier, et al.American Journal of Human Genetics|January 20, 2023
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disordersJordy Dekker, Rachel Schot, Michiel Bongaerts, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2018
Putting genome-wide sequencing in neonates into perspectivePleuntje J van der Sluijs, Emmelien Aten, Daniela Q C M Barge-Schaapveld, et al.Pageof 17