Diagnostic challenges and outcome of fatty acid oxidation defects in a tertiary care center in Lebanon.

Autor: Daher RT; Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon., Taoum KE; Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon., Samaha J; Inherited Metabolic Diseases Program, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon., Karam PE; Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon. pk06@aub.edu.lb.; Inherited Metabolic Diseases Program, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon. pk06@aub.edu.lb.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Aug 29; Vol. 19 (1), pp. 315. Date of Electronic Publication: 2024 Aug 29.

Genetic literacy among primary care physicians in a resource-constrained setting.

Autor: Karam PE; Department of Biochemistry and Molecular Genetics, Faculty of Medicine, American University of Beirut, Beirut, Lebanon.; Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon., Hamad L; Faculty of Medicine, American University of Beirut, Beirut, Lebanon., Elsherif M; Department of Epidemiology and Population Health, Faculty of Health Sciences, American University of Beirut, Beirut, Lebanon., Kreidieh K; Faculty of Medicine, American University of Beirut, Beirut, Lebanon., Nakouzi G; Hudson Alpha Clinical Services Lab, LLC, Huntsville, AL, USA., El Asmar K; Department of Epidemiology and Population Health, Faculty of Health Sciences, American University of Beirut, Beirut, Lebanon., Kabakian-Khasholian T; Department of Health Promotion and Community Health, Faculty of Health Sciences, American University of Beirut, Beirut, Lebanon., Curi DA; Department of Pediatrics, Division of Hematology and Oncology, Saint George Hospital University Medical Center, University of Balamand, Beirut, Lebanon., Yazbek SN; Department of Biochemistry and Molecular Genetics, Faculty of Medicine, American University of Beirut, Beirut, Lebanon. sy21@aub.edu.lb.; Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon. sy21@aub.edu.lb.

Publikováno v: BMC medical education [BMC Med Educ] 2024 Feb 13; Vol. 24 (1), pp. 140. Date of Electronic Publication: 2024 Feb 13.

Challenges of genetic diagnosis of inborn errors of metabolism in a major tertiary care center in Lebanon.

Autor: Salman DO; Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon., Mahfouz R; Department of Pathology and Laboratory Medicine, Faculty of Medicine, American University of Beirut, Beirut, Lebanon., Bitar ER; Faculty of Medicine, American University of Beirut, Beirut, Lebanon., Samaha J; Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon.; Inherited Metabolic Diseases Program, American University of Beirut Medical Center, Beirut, Lebanon., Karam PE; Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon.; Inherited Metabolic Diseases Program, American University of Beirut Medical Center, Beirut, Lebanon.

Publikováno v: Frontiers in genetics [Front Genet] 2022 Nov 18; Vol. 13, pp. 1029947. Date of Electronic Publication: 2022 Nov 18 (Print Publication: 2022).

Comb-like EEG pattern in maple syrup urine disease: A case report.

Autor: Jaafar F; Division of Child Neurology, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon., Haddad L; Division of Child Neurology, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon., Habanjar D; Division of Child Neurology, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon., Charafeddine L; Division of Neonatology, Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon., Yunis K; Division of Neonatology, Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon., Karam PE; Inherited Metabolic Diseases Program, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon; Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon., Obeid M; Division of Child Neurology, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon; Department of Anatomy, Cell Biology and Physiological Sciences, Faculty of Medicine, American University of Beirut, Beirut, Lebanon. Electronic address: mo21@aub.edu.lb.

Publikováno v: Seizure [Seizure] 2021 Apr; Vol. 87, pp. 21-24. Date of Electronic Publication: 2021 Feb 19.

Kidney and Metabolic Phenotypes in Glycogen Storage Disease Type-I Patients.

Autor: Aoun B; Division of Pediatric Nephrology, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon., Sanjad S; Division of Pediatric Nephrology, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon., Degheili JA; Division of Urology, Department of Surgery, American University of Beirut Medical Center, Beirut, Lebanon., Barhoumi A; Department of Nutrition, American University of Beirut Medical Center, Beirut, Lebanon., Bassyouni A; Inherited Metabolic Diseases Program, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon., Karam PE; Inherited Metabolic Diseases Program, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

Publikováno v: Frontiers in pediatrics [Front Pediatr] 2020 Sep 11; Vol. 8, pp. 591. Date of Electronic Publication: 2020 Sep 11 (Print Publication: 2020).