Aysegul Tokatlı

Ankara, Turkey

Last Updated: 09/26/2026

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Found 61 publications

Comparison of Ketogenesis and Ketolysis Defects: A Retrospective Single-Center Study of 30 Patients.

Comparison of Ketogenesis and Ketolysis Defects: A Retrospective Single-Center Study of 30 Patients.

Journal: Turkish archives of pediatrics

Published: September 17, 2025

High prevalence of low bone mineral density in young adults with phenylketonuria.

High prevalence of low bone mineral density in young adults with phenylketonuria.

Journal: Postgraduate medicine

Published: December 18, 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

Comprehensive analysis of 1103 infants referred to a single center due to positive newborn screening test for phenylketonuria.

Comprehensive analysis of 1103 infants referred to a single center due to positive newborn screening test for phenylketonuria.

Journal: The Turkish journal of pediatrics

Published: August 28, 2024

Clinical and laboratory characteristics of propionic acidemia in a Turkish cohort.

Clinical and laboratory characteristics of propionic acidemia in a Turkish cohort.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: August 01, 2024

Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity.

Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity.

Journal: Nutrients

Published: July 24, 2024

Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?

Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?

Journal: Nutrients

Published: May 28, 2024

Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye.

Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye.

Journal: Turkish journal of medical sciences

Published: May 23, 2024

Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency.

Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency.

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

Published: November 21, 2023

Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey.

Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey.

Journal: Molecular genetics and metabolism

Published: October 02, 2023

Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy.

Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy.

Journal: Molecular genetics and metabolism

Published: August 20, 2023

Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury.

Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury.

Journal: CEN case reports

Published: June 02, 2023

Showing 1-12 of 61

Last Updated: 09/26/2026