Berrak Bilginer Gürbüz

8PUBLICATIONS
56CO-AUTHORS
Neurology and neuromuscular diseasesAutonomic nervous systemInfant and child healthEpigenetics (incl. genome methylation and epigenomics)Chemical thermodynamics and energetics
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Publications (8)

|Jun 22, 2026
Diverse clinical spectrum of Niemann-Pick C: insights from a single center.

|Feb 19, 2026
Management of porphyria-like syndrome in tyrosinemia type 1.

Hacer Basan, Berrak Bilginer Gürbüz, Fatih Gürbüz

|Jul 21, 2025
Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye.

Ekin Özsaydi Aktaşoğlu, Aslı Inci, Rıdvan Murat Öktem

|Jul 15, 2025
Genetic, neuroimaging, and clinical characteristics of a cohort of individuals with L-2-hydroxyglutaric aciduria from Türkiye.

Ayşenur Engin Erdal, Sümeyra Zeynep Özbey, Gülten Burcu Civelek Ürey

|May 06, 2024
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10.

Berrak Bilginer Gürbüz, Basri Gülbakan, Rıza Köksal Özgül

|Apr 24, 2024
Mitochondrial phosphate-carrier deficiency mimicking infantile-onset Pompe disease.

Aynur Küçükcongar Yavaş, Hacer Basan, Serpil Dinçer

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Frequent Collaborators

3 joint publications

Hacer Basan

2 joint publications

Aynur Küçükçongar Yavaş

2 joint publications

Ayşenur Engin Erdal

2 joint publications

Çiğdem Seher Kasapkara