Publications by authors named "Ebru Canda"

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Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations.
Fehime Erdem, Ebru Canda, Havva Yazıcı, Rabia Eser, Merve Yoldaş Çelik

J Pediatr Endocrinol Metab· December 2025

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Orofacial manifestations in mucopolysaccharidoses: a comprehensive clinical and radiographic evaluation of 35 pediatric cases.
Dilşah Çoğulu, Sema Kalkan Uçar, Ebru Canda, Elif Kantar Atila, Ali Rıza Alpöz

Head Face Med· December 2025

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EVALUATION OF EXPERIENCED CLINICAL EVENTS IN POMPE DISEASE BASED ON REAL-LIFE DATA.
Fehime Erdem Karapınar, Havva Yazıcı, Merve Yoldaş Çelik, Ayşe Yüksel Yanbolu, Cenk Eraslan, Ebru Canda

Neuropediatrics· December 2025

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Simultaneous Determination of Lyso-Gb1 and Lyso-Gb3 in Plasma Using Salt-Assisted Liquid-Liquid Extraction Combined with LC-MS/MS.
Erhan Canbay, Çetin Uzun, Yasemin Akçay, Ebru Canda, Havva Yazıcı

ACS Omega· 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

Eur J Ophthalmol· November 2025

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DHCR24-related desmosterolosis in the first reported Turkish patient: Expanding the genotypic and phenotypic spectrum.
Canan Ceylan Kose, Fehime Erdem, Mehmet Berkay Akcan, Havva Yazıcı, Turgay Cokyaman, Ebru Canda

J Clin Lipidol· November 2025

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Genotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study.
Havva Yazıcı, Esra Kara, Fatma Derya Bulut, Merve Yoldaş Çelik, Burcu Köşeci, Ebru Canda

Diagnostics (Basel)· October 2025

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Nutritional management and geno-phenotyping of clinical nutrition in patients with glycogen storage diseases type VI and IX.
Sema Kalkan Uçar, Alperen Elek, Havva Yazıcı, Yasemin Atik Altınok, Ayşe Yüksel Yanbolu, Ebru Canda

Eur J Clin Nutr· August 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, Ebru Canda

J Clin Res Pediatr Endocrinol· August 2025

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Long-Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment Response.
Tanyel Zubarioglu, Banu Kadıoğlu-Yılmaz, Engin Köse, Pelin Teke-Kısa, Mehmet Cihan Balcı, Ebru Canda

J Inherit Metab Dis· July 2025

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A novel gene variant in a patient with neonatal cholestasis and liver failure.
Dogan Barut, Emine Burçe Dörtkardeşler, Miray Karakoyun, Ebru Canda, Huseyin Onay

Mol Genet Metab Rep· June 2025

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Rapid lipid-lowering response in two cases of autosomal recessive hypercholesterolemia.
Havva Yazıcı, Fehime Erdem, Ebru Canda, Sema Kalkan Uçar, Mahmut Çoker

J Clin Lipidol· March 2025

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Insights into skeletal involvement in adult Gaucher disease: a single-center experience.
Merve Yoldaş Çelik, Ebru Canda, Havva Yazıcı, Fehime Erdem, Ayşe Yüksel Yanbolu

J Bone Miner Metab· March 2025

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Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes.
Merve Yoldas Celik, Ebru Canda, Havva Yazici, Fehime Erdem, Ayse Yuksel Yanbolu

Eur J Pediatr· December 2024

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Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease.
Merve Yoldas Celik, Havva Yazici, Fehime Erdem, Ayse Yuksel Yanbolu, Ebru Canda

Pediatr Int· December 2024

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Determination of selected oxysterol levels, oxidative stress, and macrophage activation indicators in children and adolescents with familial hypercholesterolemia.
Erhan Canbay, Ebru Canda, Havva Yazıcı, Gulcin Kayan Kasıkcı, Burak Durmaz

Lipids Health Dis· November 2024

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Long-term personalized high-protein, high-fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary compliance.
Sema Kalkan Uçar, Yasemin Atik Altınok, Yelda Mansuroglu, Ebru Canda, Havva Yazıcı

J Inherit Metab Dis· September 2024

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Long-term clinical outcomes and management of hypertriglyceridemia in children with Apo-CII deficiency.
Merve Yoldas Celik, Ebru Canda, Havva Yazici, Fehime Erdem, Ayse Yuksel Yanbolu

Nutr Metab Cardiovasc Dis· July 2024

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Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.
Tanyel Zubarioglu, Ertuğrul Kıykım, Engin Köse, Fatma Tuba Eminoğlu, Pelin Teke Kısa, Ebru Canda

Mol Genet Metab· June 2024

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Development of a New Amperometric Biosensor for Measurement of Plasma Galactose Levels.
Erhan Canbay, Ebru Sezer, Ebru Canda, Havva Yazıcı, Sema Kalkan Uçar

ACS Omega· February 2024

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Glycosaminoglycan-induced proinflammatory cytokine levels as disease marker in mucopolysaccharidosis.
Oznur Çopur, Havva Yazıcı, Erhan Canbay, Burak Durmaz, Ebru Canda

Cytokine· January 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, Ebru Canda

J Pediatr Endocrinol Metab· January 2024

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Development, optimization and validation of LC-MS/MS method for the determination of DBS GALT enzyme activity.
Muhammet Topbaş, Erhan Canbay, Ebru Sezer, Ebru Canda, Sema Kalkan Uçar

Anal Biochem· October 2023

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The relationship between ultrasonographically measured testicular volumes and cord blood inhibin B concentrations in healthy term male neonates.
Betül Ersoy, Gülgün Yılmaz Ovalı, Ebru Canda, Ece Onur, Beyhan Cengiz Özyurt

Reprod Biol· September 2023

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COVID-19 and Vaccination Status in Lysosomal Storage Diseases: A Single-Center Experience.
Merve Yoldaş Çelik, Ebru Canda, Havva Yazıcı, Fehime Erdem, Pınar Yazıcı Özkaya

Turk Arch Pediatr· May 2023

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