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American Journal of Medical Genetics. Part A|April 27, 2026
Early-Onset Epileptic Encephalopathy and Neurodevelopmental Regression Associated With ST3GAL5 DeficiencySabire Gokalp, Elif Guler, Mustafa KilicClinical Dysmorphology|May 8, 2026
Clinical spectrum of acyl-CoA synthetase family member 3-related combined malonic and methylmalonic aciduria: insights from four casesSabire Gokalp, Hacer Basan, Asburce Olgac, et al.European Journal of Clinical Nutrition|February 24, 2024
Intestinal microbiota composition of children with glycogen storage Type I patientsSabire Gokalp, Ener Cagri Dinleyici, Cansu Muluk, et al.European Journal of Clinical Nutrition|March 24, 2026
Alterations in gut microbiota composition in children with methylmalonic acidemia, propionic acidemia, and maple syrup urine diseaseSabire Gokalp, Ener Cagri Dinleyici, Cansu Muluk, et al.Echocardiography (Mount Kisco, N.Y.)|April 26, 2026
Left Ventricular Global Longitudinal Strain as an Early Predictor of Disease Severity Progression in Gaucher Disease Type 1Sabire Gokalp, Serkan Unlu, Aslı Inci, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|April 16, 2024
Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapyAyse Kilic, Merve Emecen Sanli, Ekin Ozsaydı Aktasoglu, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|April 17, 2024
A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature reviewSabire Gokalp, Asli Inci, Ayse Kilic, et al.Pageof 1