Publications by authors named "Mahmut Coker"

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

Eur J Ophthalmol· November 2025

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The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, Rebecca Ganetzky, René G Feichtinger, Mahmut Coker

Brain· 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

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

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

J Clin Res Pediatr Endocrinol· August 2025

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Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye.
Ekin Özsaydi Aktaşoğlu, Aslı Inci, Rıdvan Murat Öktem, Gürsel Biberoğlu, İlyas Okur

Turk J Med Sci· July 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, Mahmut Coker

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, Mahmut Coker

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, Mahmut Coker

Lipids Health Dis· November 2024

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Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl.
Merve Yoldaş Çelik, Ebru Canda, Havva Yazıcı, Fehime Erdem, Ayşe Yüksel Yanbolu

J Clin Res Pediatr Endocrinol· September 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, Mahmut Coker

Nutr Metab Cardiovasc Dis· July 2024

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Ocular Manifestations of Fabry Disease: Report from a Tertiary Eye Care Center in Türkiye.
İlayda Korkmaz, Sema Kalkan Uçar, Hüseyin Onay, Eser Yıldırım Sözmen, Mahmut Çoker

Turk J Ophthalmol· 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, Mahmut Coker

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

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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Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome.
Gülcihan Ozek, Serap Aksoylar, Sema Kalkan Uçar, Ebru Canda, Mediha Akcan

Pediatr Blood Cancer· July 2023

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Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG.
Merve Yoldas Celik, Havva Yazici, Fehime Erdem, Ayse Yuksel Yanbolu, Ayca Aykut, Mahmut Coker

J Pediatr Endocrinol Metab· June 2023

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Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective.
Nur Arslan, Mahmut Coker, Gulden Fatma Gokcay, Ertugrul Kiykim, Halise Neslihan Onenli Mungan

Front Pediatr· June 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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