Dilek Gunes

Istanbul, Turkey

Last Updated: 09/26/2026

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Found 15 publications

Cerebrotendinous xanthomatosis and pregnancy: A multicenter study of maternal and neonatal outcomes with a focus on chenodeoxycholic acid treatment during gestation.

Cerebrotendinous xanthomatosis and pregnancy: A multicenter study of maternal and neonatal outcomes with a focus on chenodeoxycholic acid treatment during gestation.

Journal: Journal of clinical lipidology

Published: February 07, 2026

Glutaric acidemia type 1 in a non-newborn-screened cohort: clinical, biochemical, and molecular features and neurologic outcomes.

Glutaric acidemia type 1 in a non-newborn-screened cohort: clinical, biochemical, and molecular features and neurologic outcomes.

Journal: Italian journal of pediatrics

Published: January 12, 2026

Genotype-phenotype correlations in phenylketonuria: PAH variants and BH4 responsiveness for treatment design.

Genotype-phenotype correlations in phenylketonuria: PAH variants and BH4 responsiveness for treatment design.

Journal: Human genomics

Published: December 11, 2025

Evaluation of Serum FGF21 Levels in Patients with Mitochondrial Aminoacyl-tRNA Synthetase Deficiency.

Evaluation of Serum FGF21 Levels in Patients with Mitochondrial Aminoacyl-tRNA Synthetase Deficiency.

Journal: International journal of molecular sciences

Published: July 28, 2025

Expanding the Clinical Spectrum of Mitochondrial Phosphate Carrier Deficiency: A Case Report With Literature Review.

Expanding the Clinical Spectrum of Mitochondrial Phosphate Carrier Deficiency: A Case Report With Literature Review.

Journal: American journal of medical genetics. Part A

Published: June 18, 2025

Long-Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment Response.

Long-Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment Response.

Journal: Journal of inherited metabolic disease

Published: April 04, 2025

Enhancing Rare Disease Awareness and Education Among Medical Professionals and Students in Türkiye.

Enhancing Rare Disease Awareness and Education Among Medical Professionals and Students in Türkiye.

Journal: Journal of evaluation in clinical practice

Published: January 04, 2025

Challenges in the clinical management of rare diseases and center-based multidisciplinary approach to creating solutions.

Challenges in the clinical management of rare diseases and center-based multidisciplinary approach to creating solutions.

Journal: European journal of pediatrics

Published: December 11, 2024

Evaluation of Body Composition and Biochemical Parameters in Adult Phenylketonuria.

Evaluation of Body Composition and Biochemical Parameters in Adult Phenylketonuria.

Journal: Nutrients

Published: September 14, 2024

Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye.

Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye.

Journal: Turkish journal of medical sciences

Published: May 23, 2024

Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.

Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.

Journal: Molecular genetics and metabolism

Published: March 22, 2024

Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.

Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.

Journal: Frontiers in genetics

Published: March 21, 2023

Showing 1-12 of 15

Last Updated: 09/26/2026