Aysenur Erdal-Engin

536164 Ankara Bilkent City Hospital, Türkiye
Ankara, 53616, Turkey

Last Updated: 09/26/2026

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Found 9 publications

Diverse clinical spectrum of Niemann-Pick C: insights from a single center.

Diverse clinical spectrum of Niemann-Pick C: insights from a single center.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: February 26, 2026

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

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

Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration.

Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: November 05, 2023

Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?

Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?

Journal: Molecular syndromology

Published: September 20, 2023

Assessment of the diagnosis, treatment, and follow-up of a group of Turkish pediatric glycogen storage disease type 1b patients with varying clinical presentations and a novel mutation.

Assessment of the diagnosis, treatment, and follow-up of a group of Turkish pediatric glycogen storage disease type 1b patients with varying clinical presentations and a novel mutation.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: July 17, 2023

Difficult to think about but easy to treat: scurvy.

Difficult to think about but easy to treat: scurvy.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: March 23, 2023

Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis.

Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis.

Journal: Molecular syndromology

Published: November 06, 2022

Comparison of the Parents' Evaluation of Developmental Status and Ages and Stages Questionnaire Developmental Screening Tests in a Eurasian Country.

Comparison of the Parents' Evaluation of Developmental Status and Ages and Stages Questionnaire Developmental Screening Tests in a Eurasian Country.

Journal: Journal of developmental and behavioral pediatrics : JDBP

Published: July 17, 2020

Showing 1-9 of 9

Last Updated: 09/26/2026