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Clinical heterogeneity of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in thirteen palestinian patients and report of a novel variant in the SLC25A15 gene

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University of Palestine
Dweikat I.; Khalaf-Nazzal R.
Dweikat, Imad (15053169600); Khalaf-Nazzal, Reham (55579868900)
15053169600; 55579868900
2022
Frontiers in Genetics
Clinical heterogeneity of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in thirteen palestinian patients and report of a novel variant in the SLC25A15 gene
13
Frontiers Media S.A.
1004598
Metabolic Department, Faculty of Medicine, Arab American University of Palestine, Jenin, Palestine; Department of Physiology and Medical Genetics, Faculty of Medicine, Arab American University of Palestine, Jenin, Palestine
Dweikat I., Metabolic Department, Faculty of Medicine, Arab American University of Palestine, Jenin, Palestine; Khalaf-Nazzal R., Department of Physiology and Medical Genetics, Faculty of Medicine, Arab American University of Palestine, Jenin, Palestine
I. Dweikat; Metabolic Department, Faculty of Medicine, Arab American University of Palestine, Jenin, Palestine; email: imad.dweikat@aaup.edu
6
10.3389/fgene.2022.1004598
autosomal recessive; frameshift variant; hepatic failure; homocitrullinuria; hyperammonemia; hyperornithinemia; SLC25A15 gene; spasticity
citrulline; ornithine; adult; Article; ataxia; brain disease; child; clinical article; cognition; DNA extraction; dystonia; enzyme assay; female; frameshift mutation; gene deletion; gene mutation; gene sequence; genetic analysis; genetic association; genetic counseling; genetic screening; genetic variability; genotype phenotype correlation; groups by age; hepatic encephalopathy; hepatomegaly; homozygosity; human; hyperammonemia; hyperbilirubinemia; hyperornithinemia hyperammonemia homocitrullinuria syndrome; hyperreflexia; liver dysfunction; male; mental deficiency; Mini Mental State Examination; missense mutation; mitochondrial membrane; motor neuron disease; muscle biopsy; muscle hypotonia; nervous system; neurologic examination; newborn; nuclear magnetic resonance imaging; Palestine; Palestinian; phenotype; pyramidal sign; pyramidal tract; spasticity; tertiary care center; thrombocytopenia