Esra Er

Dr. Behçet Uz Children's Education And Research Hospital
Izmir, Turkey

Last Updated: 09/26/2026

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Found 15 publications

Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort.

Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort.

Journal: Molecular genetics and metabolism

Published: April 28, 2026

A rare metabolic cause of premature ovarian insufficiency: case report of transaldolase deficiency.

A rare metabolic cause of premature ovarian insufficiency: case report of transaldolase deficiency.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: September 29, 2025

Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia

Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia

Journal: Journal of clinical research in pediatric endocrinology

Published: August 28, 2025

Ketogenic Diet in Niemann-Pick Type C: Insights From a Case Report.

Ketogenic Diet in Niemann-Pick Type C: Insights From a Case Report.

Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

Published: July 09, 2025

Genetic Landscape of Pediatric Dyslipidemia in a Turkish Cohort: Insights From a Single-Center Experience.

Genetic Landscape of Pediatric Dyslipidemia in a Turkish Cohort: Insights From a Single-Center Experience.

Journal: Annals of human genetics

Published: May 27, 2025

Next generation sequencing in children with isolated congenital cataract.

Next generation sequencing in children with isolated congenital cataract.

Journal: European journal of ophthalmology

Published: May 08, 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

Four cases of Chanarin-Dorfman syndrome presenting with different types of erythrokeratoderma.

Four cases of Chanarin-Dorfman syndrome presenting with different types of erythrokeratoderma.

Journal: Pediatric dermatology

Published: February 06, 2024

Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form.

Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: June 23, 2023

Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey.

Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey.

Journal: Molecular genetics and metabolism reports

Published: March 16, 2023

Clinical spectrum of early onset "Mediterranean" (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy.

Clinical spectrum of early onset "Mediterranean" (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy.

Journal: JIMD reports

Published: April 28, 2022

A female case of 5,10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities.

A female case of 5,10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities.

Journal: Brain & development

Published: March 08, 2022

Showing 1-12 of 15

Last Updated: 09/26/2026