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Clinical Profiles, Genetic Variants, and Neurodevelopmental Outcomes Following Liver Transplantation in Maple Syrup Urine Disease: A Study From Palestine

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University of Palestine
Khalaf-Nazzal R.; Haj-Ahmad H.; Zaid J.; AbuShamleh M.; Dweikat I.
Khalaf-Nazzal, Reham (55579868900); Haj-Ahmad, Huthaifa (60409458400); Zaid, Jana (60113832100); AbuShamleh, Mohammed (60409541700); Dweikat, Imad (15053169600)
55579868900; 60409458400; 60113832100; 60409541700; 15053169600
2026
JIMD Reports
Clinical Profiles, Genetic Variants, and Neurodevelopmental Outcomes Following Liver Transplantation in Maple Syrup Urine Disease: A Study From Palestine
67
2
John Wiley and Sons Inc
e70077
Biomedical Sciences Department, Faculty of Medicine, Arab American University of Palestine, Jenin, Palestine; Clinical Sciences Department, Faculty of Medicine, Arab American University of Palestine, Jenin, Palestine; Metabolic Department, Arab American University of Palestine, Jenin, Palestine; Pediatric Department, Istishari Arab Hospital, Ramallah, Palestine
Khalaf-Nazzal R., Biomedical Sciences Department, Faculty of Medicine, Arab American University of Palestine, Jenin, Palestine; Haj-Ahmad H., Clinical Sciences Department, Faculty of Medicine, Arab American University of Palestine, Jenin, Palestine; Zaid J., Biomedical Sciences Department, Faculty of Medicine, Arab American University of Palestine, Jenin, Palestine; AbuShamleh M., Clinical Sciences Department, Faculty of Medicine, Arab American University of Palestine, Jenin, Palestine; Dweikat I., Metabolic Department, Arab American University of Palestine, Jenin, Palestine, Pediatric Department, Istishari Arab Hospital, Ramallah, Palestine
I. Dweikat; Metabolic Department, Arab American University of Palestine, Jenin, Palestine; email: imad.dweikat@aaup.edu
0
10.1002/jmd2.70077
living related donor liver transplantation; maple syrup urine disease; neurocognitive development and outcome; region-specific founder variant
Article; BCKDHA gene; BCKDHB gene; brain disease; child; chromatography; clinical article; community structure; consanguinity; DBT gene; diet therapy; early diagnosis; female; gene; genetic counseling; genetic homogeneity; genetic screening; genetic variability; hospitalization; human; infant; intellectual impairment; lethargy; liver transplantation; male; maple syrup urine disease; mental disease; neuroimaging; nuclear magnetic resonance imaging; Palestine; phenotype; prenatal screening; retrospective study; whole exome sequencing