Kısmet Cıkı

Ankara, Turkey

Last Updated: 09/26/2026

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Found 25 publications

Shifting Towards Empagliflozin First-Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real-World Study.

Shifting Towards Empagliflozin First-Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real-World Study.

Journal: Journal of inherited metabolic disease

Published: December 22, 2025

Hypertrophic cardiomyopathy as a novel phenotypic feature of NSUN3-related mitochondrial disease: a case report with review of the literature.

Hypertrophic cardiomyopathy as a novel phenotypic feature of NSUN3-related mitochondrial disease: a case report with review of the literature.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: October 08, 2025

Glutathione synthetase deficiency: severe hemolysis and metabolic acidosis with symptoms in the intrauterine period.

Glutathione synthetase deficiency: severe hemolysis and metabolic acidosis with symptoms in the intrauterine period.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: August 13, 2025

A New Family with X-Linked Intellectual Disability 90: A Case Report of a Novel DLG3 Variant and Literature Review.

A New Family with X-Linked Intellectual Disability 90: A Case Report of a Novel DLG3 Variant and Literature Review.

Journal: Molecular syndromology

Published: April 05, 2025

The effect of triheptanoin treatment on clinical and laboratory outcomes in patients with long-chain fatty acid oxidation disorder.

The effect of triheptanoin treatment on clinical and laboratory outcomes in patients with long-chain fatty acid oxidation disorder.

Journal: European journal of pediatrics

Published: March 30, 2025

High prevalence of low bone mineral density in young adults with phenylketonuria.

High prevalence of low bone mineral density in young adults with phenylketonuria.

Journal: Postgraduate medicine

Published: December 18, 2024

Comprehensive analysis of 1103 infants referred to a single center due to positive newborn screening test for phenylketonuria.

Comprehensive analysis of 1103 infants referred to a single center due to positive newborn screening test for phenylketonuria.

Journal: The Turkish journal of pediatrics

Published: August 28, 2024

Clinical and laboratory characteristics of propionic acidemia in a Turkish cohort.

Clinical and laboratory characteristics of propionic acidemia in a Turkish cohort.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: August 01, 2024

Comprehensive analysis of genotypic and phenotypic characteristics of biotinidase deficiency patients in the eastern region of Türkiye.

Comprehensive analysis of genotypic and phenotypic characteristics of biotinidase deficiency patients in the eastern region of Türkiye.

Journal: The Turkish journal of pediatrics

Published: July 09, 2024

Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye.

Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: February 18, 2024

Phenotypic diversity in NAXE mutations.

Phenotypic diversity in NAXE mutations.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: January 26, 2024

Phenylketonuria: A Scoring System for Brain Magnetic Resonance Imaging.

Phenylketonuria: A Scoring System for Brain Magnetic Resonance Imaging.

Journal: Turkish archives of pediatrics

Published: September 06, 2023

Showing 1-12 of 25

Last Updated: 09/26/2026