Esma Uygur

Cerrahpasa, Turkey

Last Updated: 09/26/2026

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Found 12 publications

Revealing BCKDK Deficiency Under Autism: A Case Report, Therapeutic Outcomes, and Literature Review.

Revealing BCKDK Deficiency Under Autism: A Case Report, Therapeutic Outcomes, and Literature Review.

Journal: Turkish archives of pediatrics

Published: August 01, 2026

Clinical trajectory and long-term management of 3-Hydroxy-3-Methylglutaryl-CoA lyase deficiency: Insights from a lifespan cohort.

Clinical trajectory and long-term management of 3-Hydroxy-3-Methylglutaryl-CoA lyase deficiency: Insights from a lifespan cohort.

Journal: Molecular genetics and metabolism

Published: May 19, 2026

Neonatal Citrullinaemia Type I Complicated by Hyperinsulinaemic Hypoglycaemia: Challenges in Managing Dual Metabolic Pathways.

Neonatal Citrullinaemia Type I Complicated by Hyperinsulinaemic Hypoglycaemia: Challenges in Managing Dual Metabolic Pathways.

Journal: Journal of paediatrics and child health

Published: May 05, 2026

Managing Pregnancy in Inherited Metabolic Disorders: Experience From a Single Tertiary Metabolic Center.

Managing Pregnancy in Inherited Metabolic Disorders: Experience From a Single Tertiary Metabolic Center.

Journal: The journal of obstetrics and gynaecology research

Published: April 03, 2026

Plasma sterol profiling in autism spectrum disorder: insights from cerebrotendinous xanthomatosis screening and beyond.

Plasma sterol profiling in autism spectrum disorder: insights from cerebrotendinous xanthomatosis screening and beyond.

Journal: Metabolic brain disease

Published: October 06, 2025

The clinical utility of short-term protein substitute use during intercurrent illness in BH4-responsive phenylketonuria.

The clinical utility of short-term protein substitute use during intercurrent illness in BH4-responsive phenylketonuria.

Journal: Molecular genetics and metabolism

Published: May 12, 2025

Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study.

Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study.

Journal: Molecular genetics and metabolism reports

Published: November 27, 2024

Impact of individualized and supervised strength training on muscle physiology, metabolic control and quality of life in metabolic myopathies.

Impact of individualized and supervised strength training on muscle physiology, metabolic control and quality of life in metabolic myopathies.

Journal: Scientific reports

Published: October 24, 2024

A Methionine-Portioning-Based Medical Nutrition Therapy with Relaxed Fruit and Vegetable Consumption in Patients with Pyridoxine-Nonresponsive Cystathionine-β-Synthase Deficiency.

A Methionine-Portioning-Based Medical Nutrition Therapy with Relaxed Fruit and Vegetable Consumption in Patients with Pyridoxine-Nonresponsive Cystathionine-β-Synthase Deficiency.

Journal: Nutrients

Published: June 16, 2023

BNT162b2 COVID-19 vaccination elicited protective robust immune responses in pediatric patients with inborn errors of metabolism.

BNT162b2 COVID-19 vaccination elicited protective robust immune responses in pediatric patients with inborn errors of metabolism.

Journal: Frontiers in immunology

Published: October 27, 2022

Safety of COVID-19 vaccines in children with inborn errors of metabolism in terms of developing metabolic decompensation.

Safety of COVID-19 vaccines in children with inborn errors of metabolism in terms of developing metabolic decompensation.

Journal: Journal of paediatrics and child health

Published: April 22, 2022

The Impact of Telemedicine for Monitoring and Treatment of Phenylketonuria Patients on Metabolic Outcome During Coronavirus Disease-19 Outbreak.

The Impact of Telemedicine for Monitoring and Treatment of Phenylketonuria Patients on Metabolic Outcome During Coronavirus Disease-19 Outbreak.

Journal: Telemedicine journal and e-health : the official journal of the American Telemedicine Association

Published: March 15, 2021

Showing 1-12 of 12

Last Updated: 09/26/2026