Mahmut Coker

Bornova, Turkey

Last Updated: 09/26/2026

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Found 79 publications

Treatment strategies, radiological recovery, and neurodevelopmental outcomes in paediatric Maple Syrup Urine Disease: a 20-year single-centre experience from Türkiye.

Treatment strategies, radiological recovery, and neurodevelopmental outcomes in paediatric Maple Syrup Urine Disease: a 20-year single-centre experience from Türkiye.

Journal: Metabolic brain disease

Published: January 07, 2026

Evaluation of Experienced Clinical Events in Pompe Disease Based on Real-life Data.

Evaluation of Experienced Clinical Events in Pompe Disease Based on Real-life Data.

Journal: Neuropediatrics

Published: December 26, 2025

Genotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study.

Genotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study.

Journal: Diagnostics (Basel, Switzerland)

Published: September 30, 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

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations.

Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: June 24, 2025

Orofacial manifestations in mucopolysaccharidoses: a comprehensive clinical and radiographic evaluation of 35 pediatric cases.

Orofacial manifestations in mucopolysaccharidoses: a comprehensive clinical and radiographic evaluation of 35 pediatric cases.

Journal: Head & face medicine

Published: May 21, 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

Severe hypercholesterolemia in a pediatric cohort: Familial homozygous and autosomal recessive hypercholesterolemia.

Severe hypercholesterolemia in a pediatric cohort: Familial homozygous and autosomal recessive hypercholesterolemia.

Journal: Journal of clinical lipidology

Published: March 25, 2025

Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes.

Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes.

Journal: European journal of pediatrics

Published: October 01, 2024

Insights into skeletal involvement in adult Gaucher disease: a single-center experience.

Insights into skeletal involvement in adult Gaucher disease: a single-center experience.

Journal: Journal of bone and mineral metabolism

Published: September 22, 2024

Showing 1-12 of 79

Last Updated: 09/26/2026