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JIMD Reports|June 23, 2025
HMG-CoA Synthase-2 Deficiency: Neonatal Hyperammonemic Coma and Abnormal Metabolic Screening Resembling Maple Syrup Urine DiseaseHathaipat Vaseenon, Thipwimol Tim-Aroon, Vitchayaporn Emarach Saengow, et al.Molecular Genetics and Metabolism|October 26, 2019
Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduriaParith Wongkittichote, Gary Cunningham, Marshall L Summar, et al.JIMD Reports|November 7, 2025
Severe Neurological Presentation in Siblings With <i>COQ5</i>-Related Primary Coenzyme Q10 Deficiency: Expanding Clinical and Molecular SpectrumParith Wongkittichote, Rachel M Guerra, Daniel J Wegner, et al.JIMD Reports|November 18, 2020
Fatal COVID-19 infection in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case reportParith Wongkittichote, James R Watson, Jennifer M Leonard, et al.American Journal of Medical Genetics. Part A|January 10, 2022
Pathogenic variant in NFIA associated with subdural hematomas mimicking nonaccidental traumaParith Wongkittichote, Jamie S Kondis, Lindsay M Peglar, et al.Pediatric Neurology|November 13, 2024
Biallelic Variants in LIPT2 as a Cause of Infantile-Onset Dystonia: Expanding the Clinical and Molecular SpectrumKuntal Sen, Alonso Zea Vera, Anna Puronurmi, et al.Molecular Genetics and Metabolism|January 21, 2023
Novel LIAS variants in a patient with epilepsy and profound developmental disabilitiesParith Wongkittichote, Chanseyha Chhay, Gazelle Zerafati-Jahromi, et al.JIMD Reports|September 13, 2023
Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiencyParith Wongkittichote, Sanmati R Cuddapah, Stephen R Master, et al.Journal of Human Genetics|July 23, 2025
Expanding the clinical and molecular spectrum of TBC1D32-related ciliopathy: case reports and literature ReviewWongsathorn Eiumtrakul, Thipwimol Tim-Aroon, Wadakarn Wuthisiri, et al.Clinical Chemistry|April 10, 2024
Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Analysis of Urinary Oligosaccharides and Glycoamino Acids for the Diagnosis of Mucopolysaccharidosis and GlycoproteinosisParith Wongkittichote, Se Hyun Cho, Artis Miller, et al.Pageof 4