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Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 26, 2025
Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movementsHannah M German, Maha S Zaki, Muhammad A Usmani, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 14, 2020
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative conditionShereen G Ghosh, Sangmoon Lee, Rudy Fabunan, et al.American Journal of Hematology|July 4, 2026
Undetectable Hydroxyurea Levels in the Majority of Sickle Cell Disease Patients, Especially in Young ChildrenSigrid van der Veen, Bart J Biemond, Marjon H Cnossen, et al.Human Molecular Genetics|September 22, 2018
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delayLynne Rumping, Federico Tessadori, Petra J W Pouwels, et al.Nature Communications|April 2, 2019
Identification of human D lactate dehydrogenase deficiencyGlen R Monroe, Albertien M van Eerde, Federico Tessadori, et al.Journal of Inherited Metabolic Disease|November 17, 2020
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiencyCurtis R Coughlin, Laura A Tseng, Jose E Abdenur, et al.American Journal of Human Genetics|August 20, 2019
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related EncephalopathyClara D M van Karnebeek, Rúben J Ramos, Xiao-Yan Wen, et al.Pageof 11