Ozlem U. Uzun

Kosekoy, Turkey

Last Updated: 09/26/2026

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Found 16 publications

Corrigendum: Neonatal Rhabdomyolysis: A Case Report and Review of the Literature.

Corrigendum: Neonatal Rhabdomyolysis: A Case Report and Review of the Literature.

Journal: Neuropediatrics

Published: September 17, 2025

Potential Association Between Nonketotic Hyperglycinemia and Extensive Mongolian Spots: A Novel Dermatological Observation-Case Report.

Potential Association Between Nonketotic Hyperglycinemia and Extensive Mongolian Spots: A Novel Dermatological Observation-Case Report.

Journal: Journal of paediatrics and child health

Published: July 22, 2025

Profiles of paediatric patients experiencing stroke-like episodes associated with mitochondrial disease.

Profiles of paediatric patients experiencing stroke-like episodes associated with mitochondrial disease.

Journal: Frontiers in neurology

Published: July 01, 2025

Correction: Investigation of the Oxidative Process by Measuring Total Antioxidant Capacity and Total Oxidant Capacity in Patients with Gaucher Disease.

Correction: Investigation of the Oxidative Process by Measuring Total Antioxidant Capacity and Total Oxidant Capacity in Patients with Gaucher Disease.

Journal: Klinische Padiatrie

Published: June 02, 2025

Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study.

Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study.

Journal: Molecular genetics and metabolism

Published: May 31, 2025

Investigation of the Oxidative Process by Measuring Total Antioxidant Capacity and Total Oxidant Capacity in Patients with Gaucher Disease.

Investigation of the Oxidative Process by Measuring Total Antioxidant Capacity and Total Oxidant Capacity in Patients with Gaucher Disease.

Journal: Klinische Padiatrie

Published: May 05, 2025

Neonatal Rhabdomyolysis: A Case Report and Review of the Literature.

Neonatal Rhabdomyolysis: A Case Report and Review of the Literature.

Journal: Neuropediatrics

Published: December 19, 2024

Phenotypic Delineation of Combined Oxidative Phosphorylation Deficiency-12: Clinical Features of 2 Patients.

Phenotypic Delineation of Combined Oxidative Phosphorylation Deficiency-12: Clinical Features of 2 Patients.

Journal: Molecular syndromology

Published: June 11, 2024

A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene.

A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene.

Journal: Molecular syndromology

Published: February 22, 2023

Mitochondrial trifunctional protein deficiency as a polyneuropathy etiology in childhood.

Mitochondrial trifunctional protein deficiency as a polyneuropathy etiology in childhood.

Journal: The Turkish journal of pediatrics

Published: January 13, 2022

Frequency and status of depression and anxiety in mothers of children with inborn errors of metabolism with restricted diet, with and without risk of metabolic crises.

Frequency and status of depression and anxiety in mothers of children with inborn errors of metabolism with restricted diet, with and without risk of metabolic crises.

Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Published: October 08, 2021

Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients.

Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients.

Journal: European journal of medical genetics

Published: September 12, 2020

Showing 1-12 of 16

Last Updated: 09/26/2026