Oya Koylu-Kıreker
Ankara, Turkey
Last Updated: 09/26/2026
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Found 12 publications
Successful desensitization to alglucosidase alfa in a very young infant with Pompe disease.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: October 18, 2025
The relationship between appetite hormones and body mass index in children with intoxication type metabolic diseases.
Journal: Orphanet journal of rare diseases
Published: April 23, 2025
Evaluation of Lysosphingolipid Analysis for the Diagnosis of Lysosomal Storage Disease.
Journal: Klinische Padiatrie
Published: September 25, 2024
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?
Journal: Molecular syndromology
Published: September 20, 2023
Laboratory and Genotype Relationship of Patients with SDHA-Related Mitochondrial Disease.
Journal: Molecular syndromology
Published: June 16, 2023
Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis.
Journal: Molecular syndromology
Published: November 06, 2022
ALG11-CDG: novel variant and review of the literature.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: September 23, 2022
Two Different Diseases with Uric Acid Abnormality in the Same Patient: Be Careful About Routine Biochemical Tests!
Journal: Klinische Padiatrie
Published: September 08, 2022
Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype.
Journal: Acta neurologica Belgica
Published: March 17, 2022
CLN3-Associated NCL Case with a Preliminary Diagnosis of Niemann Pick Type C.
Journal: Molecular syndromology
Published: February 19, 2022
SLC35A2-CDG: novel variants with two ends of the spectrum.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: April 27, 2021
Showing 1-12 of 12
Last Updated: 09/26/2026