Irem Kaplan

Adana, Turkey

Last Updated: 09/26/2026

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Found 13 publications

Creatine Deficiency Syndromes: Clinical Spectrum, Neuroimaging Features and Treatment Response.

Creatine Deficiency Syndromes: Clinical Spectrum, Neuroimaging Features and Treatment Response.

Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

Published: June 23, 2026

Mucolipidosis Type III: A Hidden Challenge in the Differential Diagnosis of Rheumatological Disorders.

Mucolipidosis Type III: A Hidden Challenge in the Differential Diagnosis of Rheumatological Disorders.

Journal: Turkish archives of pediatrics

Published: May 05, 2026

Integration of deep intronic and RNA sequencing enhances molecular diagnosis in genetically unsolved Pompe cases.

Integration of deep intronic and RNA sequencing enhances molecular diagnosis in genetically unsolved Pompe cases.

Journal: Molecular genetics and metabolism reports

Published: October 30, 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

Feeding Models in Classical Phenylketonuria: Do They Make a Difference in Infant Sleep?

Feeding Models in Classical Phenylketonuria: Do They Make a Difference in Infant Sleep?

Journal: Nutrients

Published: August 17, 2025

First evaluation of fibroblast growth factor 21 levels in patients diagnosed with glycogen storage diseases with liver involvement.

First evaluation of fibroblast growth factor 21 levels in patients diagnosed with glycogen storage diseases with liver involvement.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: May 08, 2025

Neurological involvement in 51 cystinosis patients: A single-center experience.

Neurological involvement in 51 cystinosis patients: A single-center experience.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: April 01, 2025

5-Oxoprolinase Deficiency and Epilepsy: A Report of Four Cases with New Clinical Findings and Clinical Diversity Even in the Same Family.

5-Oxoprolinase Deficiency and Epilepsy: A Report of Four Cases with New Clinical Findings and Clinical Diversity Even in the Same Family.

Journal: Molecular syndromology

Published: December 10, 2024

A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics.

A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics.

Journal: Orphanet journal of rare diseases

Published: October 21, 2024

Clinical features and rare complications in 132 patients with hepatic glycogenosis.

Clinical features and rare complications in 132 patients with hepatic glycogenosis.

Journal: Orphanet journal of rare diseases

Published: August 16, 2024

Early diagnostic clues of mucolipidosis type II: Significance of radiological findings.

Early diagnostic clues of mucolipidosis type II: Significance of radiological findings.

Journal: American journal of medical genetics. Part A

Published: July 10, 2023

Actions speak louder than words: Home visits and its effect on dietary adherence in patients with phenylketonuria.

Actions speak louder than words: Home visits and its effect on dietary adherence in patients with phenylketonuria.

Journal: Journal of paediatrics and child health

Published: March 30, 2023

Showing 1-12 of 13

Last Updated: 09/26/2026