Publications by authors named "Esra Er"

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A rare metabolic cause of premature ovarian insufficiency: case report of transaldolase deficiency.
Özge Köprülü, Esra Er

J Pediatr Endocrinol Metab· December 2025

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Next generation sequencing in children with isolated congenital cataract.
Gunay Amanova, Esra Er, Esra Isik, Ebru Canda, Turkan Turkut Tan, Mahmut Coker, Onder Uretmen

Eur J Ophthalmol· November 2025

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Ketogenic Diet in Niemann-Pick Type C: Insights From a Case Report.
Bahar Kulu, Pelin Teke Kısa, Esra Er, Serdar Pekuz, Zeynep Akisin, Serdar Ceylaner

Int J Dev Neurosci· October 2025

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Genetic Landscape of Pediatric Dyslipidemia in a Turkish Cohort: Insights From a Single-Center Experience.
Kadri Murat Erdoğan, Mehmet Berkay Akcan, Havva Yazıcı, Berk Özyılmaz, Taha Reşid Özdemir, Özge Özer Kaya, Esra Er, Merve Saka Güvenç

Ann Hum Genet· October 2025

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Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia.
Havva Yazıcı, Esra Er, Fehime Erdem, Ayşe Yüksel Yanbolu, Sakina Mammadova, Merve Yoldaş Çelik, Mahmut Çoker

J Clin Res Pediatr Endocrinol· August 2025

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The effect of triheptanoin treatment on clinical and laboratory outcomes in patients with long-chain fatty acid oxidation disorder.
Engin Köse, Aslı İnci, Havva Yazıcı, Tanyel Zübarioğlu, Sebile Kılavuz, Esra Er, Leyla Tümer

Eur J Pediatr· May 2025

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Four cases of Chanarin-Dorfman syndrome presenting with different types of erythrokeratoderma.
Tubanur Çetinarslan, Havva Yazıcı, Kadri Murat Erdoğan, Sema Kalkan Uçar, Göksu Dalgıç, Esra Er, Peyker Temiz, Aylin Türel Ermertcan, Regina Fölster-Holst

Pediatr Dermatol· November 2024

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Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form.
Havva Yazıcı, Gunes Ak, Merve Yoldas Çelik, Fehime Erdem, Ayse Yuksel Yanbolu, Esra Er, Ayse Ergül Bozacı, Merve Saka Güvenç, Mahmut Çoker

J Pediatr Endocrinol Metab· January 2024

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Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey.
Ayse Ergül Bozaci, Esra Er, Aysel Tekmenuray Ünal, İbrahim Taş, Ercan Ayaz

Mol Genet Metab Rep· September 2023

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A female case of 5,10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities.
Dilek Cavusoglu, Melis Kose, Esra Er, Muhsin Elmas, Pinar Gencpinar

Brain Dev· October 2022

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Clinical spectrum of early onset "Mediterranean" (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy.
Sema Kalkan Uçar, Havva Yazıcı, Ebru Canda, Esra Er, Fatma Derya Bulut, Cenk Eraslan, Mahmut Çoker

JIMD Rep· September 2022

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Tetrahydrobiopterin deficiencies: Lesson from clinical experience.
Ayse Ergul Bozaci, Esra Er, Havva Yazici, Ebru Canda, Sema Kalkan Uçar, Merve Güvenc Saka, Cenk Eraslan, Mahmut Coker

JIMD Rep· May 2021

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Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey.
Melis Kose, Engin Kose, Aycan Ünalp, Ünsal Yılmaz, Selvinaz Edizer, Esra Er, Eser Sozmen Yildirim

Neurol Sci· March 2021

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Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey.
Pelin Teke Kisa, Melis Kose, Ozlem Unal, Esra Er, Burcu Ozturk Hismi

J Pediatr Endocrinol Metab· July 2019

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Single center experience of biotinidase deficiency: 259 patients and six novel mutations.
Ebru Canda, Havva Yazici, Esra Er, Melis Kose, Gunes Basol, Ferda Ozkinay, Mahmut Coker

J Pediatr Endocrinol Metab· August 2018

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