Cigdem S. Kasapkara

Yildirim Beyazit, Turkey

Last Updated: 09/26/2026

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Found 101 publications

Cardiac involvement in children with inborn errors of metabolism: a single-centre cohort study.

Cardiac involvement in children with inborn errors of metabolism: a single-centre cohort study.

Journal: Cardiology in the young

Published: May 29, 2026

Left Ventricular Global Longitudinal Strain as an Early Predictor of Disease Severity Progression in Gaucher Disease Type 1.

Left Ventricular Global Longitudinal Strain as an Early Predictor of Disease Severity Progression in Gaucher Disease Type 1.

Journal: Echocardiography (Mount Kisco, N.Y.)

Published: March 12, 2026

An Atypical Neurosensory-Predominant Presentation Associated with a Homozygous NDUFS3 Variant: A Diagnostic Challenge Involving Retinal and Hearing Phenotypes.

An Atypical Neurosensory-Predominant Presentation Associated with a Homozygous NDUFS3 Variant: A Diagnostic Challenge Involving Retinal and Hearing Phenotypes.

Journal: Molecular syndromology

Published: November 18, 2025

A Case Report: Diagnostic Route of a Patient with PLA2G6-Infantile Neuroaxonal Dystrophy and Familial Hyperlipidemia.

A Case Report: Diagnostic Route of a Patient with PLA2G6-Infantile Neuroaxonal Dystrophy and Familial Hyperlipidemia.

Journal: Molecular syndromology

Published: July 25, 2025

Evaluation of food rejection and swallowing function in inherited metabolic diseases on diet therapy.

Evaluation of food rejection and swallowing function in inherited metabolic diseases on diet therapy.

Journal: European journal of clinical nutrition

Published: July 22, 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

Management of porphyria-like syndrome in tyrosinemia type 1.

Management of porphyria-like syndrome in tyrosinemia type 1.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: June 03, 2025

The relationship between appetite hormones and body mass index in children with intoxication type metabolic diseases.

The relationship between appetite hormones and body mass index in children with intoxication type metabolic diseases.

Journal: Orphanet journal of rare diseases

Published: April 23, 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

Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis.

Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis.

Journal: Journal of inherited metabolic disease

Published: February 14, 2025

Genetic, neuroimaging, and clinical characteristics of a cohort of individuals with L-2-hydroxyglutaric aciduria from Türkiye.

Genetic, neuroimaging, and clinical characteristics of a cohort of individuals with L-2-hydroxyglutaric aciduria from Türkiye.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: January 09, 2025

D-Bifunctional Protein Deficiency Type III: Two Turkish Cases and a Novel HSD17B4 Gene Variant.

D-Bifunctional Protein Deficiency Type III: Two Turkish Cases and a Novel HSD17B4 Gene Variant.

Journal: Molecular syndromology

Published: December 08, 2024

Showing 1-12 of 101

Last Updated: 09/26/2026