Pelin Kısa-Teke

Dr. Behçet Uz Children's Education And Research Hospital
Izmir, Turkey

Last Updated: 09/26/2026

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Found 11 publications

Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort.

Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort.

Journal: Molecular genetics and metabolism

Published: April 28, 2026

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

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

Fabry disease in familial Mediterranean fever according to the severity of the disease.

Fabry disease in familial Mediterranean fever according to the severity of the disease.

Journal: Reumatologia clinica

Published: April 24, 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

Expression of Autophagy-Related Proteins in Microlissencephaly Associated with a Novel Variant in the WDR81 Gene.

Expression of Autophagy-Related Proteins in Microlissencephaly Associated with a Novel Variant in the WDR81 Gene.

Journal: Molecular syndromology

Published: March 18, 2024

A challenging etiology of myopathy: The late-onset Pompe disease.

A challenging etiology of myopathy: The late-onset Pompe disease.

Journal: European journal of rheumatology

Published: August 09, 2022

Positive effects of ketogenic diet on weight control in children with obesity due to Prader-Willi syndrome.

Positive effects of ketogenic diet on weight control in children with obesity due to Prader-Willi syndrome.

Journal: Clinical endocrinology

Published: July 16, 2022

Lipemia Retinalis Diagnosed Incidentally After Laser Photocoagulation Treatment for Retinopathy of Prematurity

Lipemia Retinalis Diagnosed Incidentally After Laser Photocoagulation Treatment for Retinopathy of Prematurity

Journal: Turkish journal of ophthalmology

Published: October 27, 2021

Role of surveillance screening in detecting tumor recurrence after treatment of childhood cancers.

Role of surveillance screening in detecting tumor recurrence after treatment of childhood cancers.

Journal: Turkish archives of pediatrics

Published: January 10, 2020

Severe hyperchylomicronemia in two infants with novel APOC2 gene mutation.

Severe hyperchylomicronemia in two infants with novel APOC2 gene mutation.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: June 29, 2018

Showing 1-11 of 11

Last Updated: 09/26/2026