Sabire G. Gokalp

Etlik, Turkey

Last Updated: 09/26/2026

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Found 20 publications

A Newly Identified YIF1B Frameshift Variant Causing Kaya-Barakat-Masson Syndrome.

A Newly Identified YIF1B Frameshift Variant Causing Kaya-Barakat-Masson Syndrome.

Journal: Journal of child neurology

Published: August 13, 2026

Hypercobalaminemia in children: clinical characteristics and ınherited metabolic diagnoses in a tertiary-center cohort.

Hypercobalaminemia in children: clinical characteristics and ınherited metabolic diagnoses in a tertiary-center cohort.

Journal: European journal of pediatrics

Published: June 23, 2026

Clinical spectrum of acyl-CoA synthetase family member 3-related combined malonic and methylmalonic aciduria: insights from four cases.

Clinical spectrum of acyl-CoA synthetase family member 3-related combined malonic and methylmalonic aciduria: insights from four cases.

Journal: Clinical dysmorphology

Published: May 08, 2026

Left Ventricular Global Longitudinal Strain as an Early Predictor of Disease Severity Progression in Gaucher Disease Type 1.

Left Ventricular Global Longitudinal Strain as an Early Predictor of Disease Severity Progression in Gaucher Disease Type 1.

Journal: Echocardiography (Mount Kisco, N.Y.)

Published: March 12, 2026

Early-Onset Epileptic Encephalopathy and Neurodevelopmental Regression Associated With ST3GAL5 Deficiency.

Early-Onset Epileptic Encephalopathy and Neurodevelopmental Regression Associated With ST3GAL5 Deficiency.

Journal: American journal of medical genetics. Part A

Published: February 12, 2026

Markers of Inflammation and Autoinflammation in Patients With Gaucher Disease: A Single-Center Observational Study.

Markers of Inflammation and Autoinflammation in Patients With Gaucher Disease: A Single-Center Observational Study.

Journal: Clinical pediatrics

Published: November 21, 2025

Alterations in gut microbiota composition in children with methylmalonic acidemia, propionic acidemia, and maple syrup urine disease.

Alterations in gut microbiota composition in children with methylmalonic acidemia, propionic acidemia, and maple syrup urine disease.

Journal: European journal of clinical nutrition

Published: August 04, 2025

Evaluation of the resilience status of children with inherited metabolic disorders and the levels of their mothers' burnout and resilience.

Evaluation of the resilience status of children with inherited metabolic disorders and the levels of their mothers' burnout and resilience.

Journal: BMC pediatrics

Published: May 07, 2025

Correction: Intestinal microbiota composition of children with glycogen storage Type I patients.

Correction: Intestinal microbiota composition of children with glycogen storage Type I patients.

Journal: European journal of clinical nutrition

Published: November 01, 2024

A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review.

A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: December 25, 2023

Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy.

Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: November 11, 2023

Intestinal microbiota composition of children with glycogen storage Type I patients.

Intestinal microbiota composition of children with glycogen storage Type I patients.

Journal: European journal of clinical nutrition

Published: May 17, 2023

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Last Updated: 09/26/2026