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International Journal of Neonatal Screening|March 20, 2020
Reducing False-Positive Results in Newborn Screening Using Machine LearningGang Peng, Yishuo Tang, Tina M Cowan, et al.Surgical Neurology|July 17, 2009
Resolution of syringomyelia after release of tethered cordAndrew R Hsu, Lewis C Hou, Anand Veeravagu, et al.Journal of Pediatric Hematology/Oncology|July 1, 2009
Hypoplastic glomerulocystic kidney disease and hepatoblastoma: a potential association not caused by mutations in hepatocyte nuclear factor 1betaOmar A Abdul-Rahman, Emma L Edghill, Andrea Kwan, et al.Mitochondrion|October 11, 2011
Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucineRachel Cox, Julia Platt, Li Chieh Chen, et al.Pediatric Neurology|January 17, 2015
Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolismClaudia Soler-Alfonso, Gregory M Enns, Mary Kay Koenig, et al.Molecular Genetics and Metabolism|October 9, 2021
Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotypeGregory M Enns, Zineb Ammous, Ryan W Himes, et al.Molecular Genetics and Metabolism Reports|October 20, 2025
Carbonic anhydrase VA deficiency due to a novel CA5A variantLaura Keehan, Elizabeth Null, Lekha Chilakamarri, et al.Plos One|October 14, 2020
AMP-independent activator of AMPK for treatment of mitochondrial disordersTereza Moore, Rolando E Yanes, Melissa A Calton, et al.Molecular Genetics and Metabolism|November 19, 2018
Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newbornsGang Peng, Christina A de Fontnouvelle, Gregory M Enns, et al.Journal of Inherited Metabolic Disease|March 28, 2020
Ethnic variability in newborn metabolic screening markers associated with false-positive outcomesGang Peng, Yishuo Tang, Neeru Gandotra, et al.Pageof 14