Gonca Yıldırım-Kılıc

Eskisehir, Turkey

Last Updated: 09/26/2026

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Found 10 publications

Are children with inborn errors of metabolism and cystic fibrosis adequately protected? Immunization status and seroepidemiological evaluation of vaccine-preventable diseases.

Are children with inborn errors of metabolism and cystic fibrosis adequately protected? Immunization status and seroepidemiological evaluation of vaccine-preventable diseases.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: January 06, 2026

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

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

Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Turkey.

Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Turkey.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: January 27, 2022

Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability.

Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: April 16, 2021

Niemann-Pick type C disease with a novel intronic mutation: three Turkish cases from the same family.

Niemann-Pick type C disease with a novel intronic mutation: three Turkish cases from the same family.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: January 27, 2021

A severe course of serogroup W meningococcemia in a patient with infantile nephropathic cystinosis.

A severe course of serogroup W meningococcemia in a patient with infantile nephropathic cystinosis.

Journal: Human vaccines & immunotherapeutics

Published: May 14, 2020

Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population.

Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: March 05, 2020

Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis.

Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis.

Journal: The Turkish journal of pediatrics

Published: January 01, 2017

Thromboelastogram as a Tool to Predict Hypercoagulability in Children With Cystic Fibrosis.

Thromboelastogram as a Tool to Predict Hypercoagulability in Children With Cystic Fibrosis.

Journal: Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis

Published: December 30, 2016

Showing 1-10 of 10

Last Updated: 09/26/2026