Berrak Gurbuz-Bilginer

Yildirim Beyazit, Turkey

Last Updated: 09/26/2026

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Found 17 publications

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

Management of porphyria-like syndrome in tyrosinemia type 1.

Management of porphyria-like syndrome in tyrosinemia type 1.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: June 03, 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

Evaluation of Lysosphingolipid Analysis for the Diagnosis of Lysosomal Storage Disease.

Evaluation of Lysosphingolipid Analysis for the Diagnosis of Lysosomal Storage Disease.

Journal: Klinische Padiatrie

Published: September 25, 2024

Homozygous PGAP2 Mutation Causes Hyperphosphatasia with Mental Retardation Syndrome-3: Genetic and Clinical Evaluation of the Ultra-Rare Inherited Glycosylphosphatidylinositol Biosynthesis Defect.

Homozygous PGAP2 Mutation Causes Hyperphosphatasia with Mental Retardation Syndrome-3: Genetic and Clinical Evaluation of the Ultra-Rare Inherited Glycosylphosphatidylinositol Biosynthesis Defect.

Journal: Molecular syndromology

Published: September 06, 2024

Next-Generation Sequencing in Diagnosis of Monogenic Cholestatic Liver Disorders: A Single-Center Experience.

Next-Generation Sequencing in Diagnosis of Monogenic Cholestatic Liver Disorders: A Single-Center Experience.

Journal: Molecular syndromology

Published: June 16, 2024

Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy.

Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy.

Journal: Molecular syndromology

Published: June 01, 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

Mitochondrial phosphate-carrier deficiency mimicking infantile-onset Pompe disease.

Mitochondrial phosphate-carrier deficiency mimicking infantile-onset Pompe disease.

Journal: American journal of medical genetics. Part A

Published: December 19, 2023

Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency.

Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency.

Journal: European journal of pediatrics

Published: September 04, 2023

A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency.

A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency.

Journal: Molecular syndromology

Published: August 10, 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

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Last Updated: 09/26/2026