Berrak Bilginer Gürbüz

Publication Activity (10 Years)

Years Active: 2022-2024
Publications (10 Years): 9

Top Topics

High Resolution Mass Spectrometry

Hypertrophic Cardiomyopathy

Endoplasmic Reticulum

Top Venues

American journal of medical genetics. Part A

Metabolic brain disease

Journal of pediatric endocrinology & metabolism : JPEM

This page only lists publications with an associated author ORCID identifier.

Publications

Berrak Bilginer Gürbüz, Basri Gülbakan, Rıza Köksal Özgül, Dilek Yalnızoğlu, Didem Yücel Yılmaz, Rahşan Gocmen, Can Koşukcu, Nurgun Kandemir, Neşe Vardar Acar, Bekir Salih, Ali Dursun
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10. American journal of medical genetics. Part A 194 (9) (2024)
Aynur Küçükcongar Yavaş, Hacer Basan, Serpil Dinçer, Berrak Bilginer Gürbüz, Çiğdem Seher Kasapkara
Mitochondrial phosphate-carrier deficiency mimicking infantile-onset Pompe disease. American journal of medical genetics. Part A 194 (9) (2024)
Berrak Bilginer Gürbüz, Basri Gülbakan, Rıza Köksal Özgül, Dilek Yalnızoğlu, Didem Yücel Yılmaz, Rahşan Gocmen, Can Koşukcu, Nurgun Kandemir, Neşe Vardar Acar, Bekir Salih, Ali Dursun
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10. American journal of medical genetics. Part A (2024)
Aynur Küçükcongar Yavaş, Hacer Basan, Serpil Dinçer, Berrak Bilginer Gürbüz, Çiğdem Seher Kasapkara
Mitochondrial phosphate-carrier deficiency mimicking infantile-onset Pompe disease. American journal of medical genetics. Part A (2024)
Aynur Küçükcongar Yavaş, Hacer Basan, Serpil Dinçer, Berrak Bilginer Gürbüz, Çiğdem Seher Kasapkara
Mitochondrial phosphate-carrier deficiency mimicking infantile-onset Pompe disease. American journal of medical genetics. Part A 194 (9) (2024)
Berrak Bilginer Gürbüz, Basri Gülbakan, Rıza Köksal Özgül, Dilek Yalnızoğlu, Didem Yücel Yılmaz, Rahşan Gocmen, Can Koşukcu, Nurgun Kandemir, Neşe Vardar Acar, Bekir Salih, Ali Dursun
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10. American journal of medical genetics. Part A 194 (9) (2024)
Berrak Bilginer Gürbüz, Basri Gülbakan, Rıza Köksal Özgül, Dilek Yalnızoğlu, Didem Yücel Yılmaz, Rahşan Gocmen, Can Koşukcu, Nurgun Kandemir, Neşe Vardar Acar, Bekir Salih, Ali Dursun
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10. American journal of medical genetics. Part A 194 (9) (2024)
Aynur Küçükçongar Yavaş, Ayşenur Engin Erdal, Berrak Bilginer Gürbüz, Aysel Ünlüsoy Aksu, Çiğdem Seher Kasapkara
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 of pediatric endocrinology & metabolism : JPEM (2023)
Dilek Demiral Özgedi K, Suna Tokgoz-Yilmaz, Berrak Bilginer Gürbüz, Hatice Serap Sivri, Gonca Sennaroglu
Does glutaric aciduria type 1 affect hearing function? Metabolic brain disease 37 (6) (2022)