Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase ( UMPS ) mutation.

Autor: Al Absi HS; Department of Pediatrics, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates., Sacharow S; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Al Zein N; Department of Pediatrics, Division of Hematology and Oncology, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates., Al Shamsi A; Department of Pediatrics, Division of Genetics and Metabolic, Tawam Hospital, Al Ain, United Arab Emirates., Al Teneiji A; Department of Pediatrics, Division of Metabolic Genetics, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2021 Jan 09; Vol. 26, pp. 100703. Date of Electronic Publication: 2021 Jan 09 (Print Publication: 2021).

Type I regressed pleuropulmonary blastoma in a 10-year-old boy.

Autor: Al Absi HS; Division of General Pediatrics, Department of Pediatrics, Sheikh Khalifa Medical City, Al Karama street, Abu Dhabi, United Arab Emirates., Konstantinopoulou S; Department of Pediatrics, Division of Pulmonology, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates., Al Junaibi AA; Department of Surgery, Division of Pediatric Surgery, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates., Abdullah MF; Department of Pediatrics, Division of Hematology, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates., Sharma V; Department of Pathology, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates., Al Marzooqi S; Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.

Publikováno v: Indian journal of thoracic and cardiovascular surgery [Indian J Thorac Cardiovasc Surg] 2019 Oct; Vol. 35 (4), pp. 579-583. Date of Electronic Publication: 2019 May 08.