Gürsel Biberoğlu - Publications, H-index & Citations

Gürsel Biberoğlu

gazi university

16H指数

99论文数

828被引数

收录论文 22

发表时间

Markers of Inflammation and Autoinflammation in Patients With Gaucher Disease: A Single-Center Observational Study 高雪病患者的炎症和自身炎症标志物：一项单中心观察性研究

Clinical Pediatrics

IF0.7

2025-11-01

PREAI

Akyuz, Ayse; Emecen Sanli, Merve; Aktasoglu, Ekin Ozsaydi; Gokalp, Sabire; Biberoglu, Gursel; Inci, Asli; Okur, Ilyas; Ezgu, Fatih Suheyl; Tumer, Leyla

Retargeting phenylbutyrate, ursodeoxycholic acid, pyrimethamine and betaine for beta-glucocerebrosidase recovery in Gaucher disease fibroblasts resulting from homozygous p. L483P mutation

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-02-01

PREAI

Kilic, Ayse; Biberoglu, Gursel; Oktem, Murat; Inci, Asli; Demirel, Sumeyye Aydogdu; Udgu, Basak; Yuce, Alime B.; Gonul, Ipek; Okur, Ilyas; Tumer, Leyla; Ezgu, Fatih

Synergistic action of the chemical chaperone 4-phenylbutyrate and the pharmacological chaperone migalastat on restoration of α-galactosidase activity of Fabry G258R mutation

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-02-01

PREAI

Dundar, Halil; Biberoglu, Gursel; Inci, Asli; Okur, Ilyas; Tumer, Leyla; Ezgu, Fatih

Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2021-10-19

OAAI

Inci, Asli; Okur, Ilyas; Tumer, Leyla; Biberoglu, Gursel; Oktem, Murat; Ezgu, Fatih

The first case with FBXL4 mutation successfully treated with a parenteral ketogenic diet for lactic acidosis

JOURNAL OF PARENTERAL AND ENTERAL NUTRITION

IF4.1

2021-05-25

PREAI

Inci, Asli; Aktas, Emine; Cengiz Ergin, Filiz Basak; Okur, Ilyas; Biberoglu, Gursel; Ezgu, Fatih Suheyl; Tumer, Leyla

Autism: Screening of inborn errors of metabolism and unexpected results

AUTISM RESEARCH

IF5.6

2021-02-19

PREAI

Inci, Asli; Ozaslan, Ahmet; Okur, Ilyas; Biberoglu, Gursel; Guney, Esra; Ezgu, Fatih Suheyl; Tumer, Leyla; Iseri, Elvan

The chemical chaperone 4-phenylbutyrate enhances alpha-galactosidase activity subsequent to stop-codon read-through therapy with triamterene in Fabry R227X fibroblasts

MOLECULAR GENETICS AND METABOLISM

IF3.5

2021-02-01

PREAI

Dundar, Halil; Biberoglu, Gursel; Inci, Asli; Gonul, Ipek Isik; Okur, Ilyas; Tumer, Leyla; Ezgu, Fatih Suheyl

Beneficial Effects of Modified Atkins Diet in Glycogen Storage Disease Type IIIa 改良阿特金斯饮食对IIIa型糖原贮积病的有益作用

ANNALS OF NUTRITION AND METABOLISM

IF2.9

2020-07-24

PREAI

Olgac, Asburce; Inci, Asli; Okur, Ilyas; Biberoglu, Gursel; Oguz, Deniz; Ezgu, Fatih Suheyl; Kasapkara, Cigdem Seher; Aktas, Emine; Tumer, Leyla

Triamterene-induced suppression of R227X premature termination codon in Fabry disease

MOLECULAR GENETICS AND METABOLISM

IF3.5

2020-02-01

PREAI

Dundar, Halil; Udgu, Basak; Biberoglu, Gursel; Inci, Ash; Ezgu, Fatih; Gonul, Ipek Isik; Okur, Ilyas; Tumer, Leyla

A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase

METABOLIC BRAIN DISEASE

IF3.5

2019-02-02

PREAI

Kilic, Mustafa; Kasapkara, Cigdem Seher; Kilavuz, Sebile; Mungan, Neslihan Onenli; Biberoglu, Gursel

In vitro translational readthrough by gentamicin and geneticin improves GLA activity in Fabry disease

MOLECULAR GENETICS AND METABOLISM

IF3.5

2017-01-01

PREAI

Dundar, Halil; Biberoglu, Gursel; Okur, Ilyas; Tumer, Leyla; Ezgu, Fatih Suheyl

The results of enzyme studies in the diagnosis of lysosomal diseases: 8 years experience of Gazi University, Ankara, Turkey

MOLECULAR GENETICS AND METABOLISM

IF3.5

2015-02-01

PREAI

Hasanoglu, Alev; Biberoglu, Gursel; Okur, Ilyas; Turner, Leyla; Ezgu, Fatih Suheyl; Udgu, Basak; Olgac, Asburce

Isovaleric acidemia and Niemann Pick disease type C coexistence and new mutation for Niemann Pick disease type C

MOLECULAR GENETICS AND METABOLISM

IF3.5

2015-02-01

PREAI

Tumer, Leyla; Olgac, Asburce; Biberoglu, Gursel; Sari, Sinan; Dalgic, Buket; Hasanoglu, Alev

Identification of novel mutations and prevalence for Fabry disease (FD) via screening studies using dried blood samples (DBS) among hemodialysis patients in Turkey

MOLECULAR GENETICS AND METABOLISM

IF3.5

2015-02-01

PREAI

Okura, Ilyas; Biberoglu, Gursel; Ezgu, Fatih Suheyl; Turner, Leyla; Erten, Yasemin; Bicik, Zerrin; Akin, Yasemin; Ecder, Tevfik; Hasanoglu, Alev

Importance of family screening in Fabry disease: Reaching the bottom of the iceberg

MOLECULAR GENETICS AND METABOLISM

IF3.5

2015-02-01

PREAI

Ezgu, Fatih; Koca, Serhat; Okur, Ilyas; Biberoglu, Gursel; Tumer, Leyla; Bakkaloglu, Sevcan; Erten, Yasemin; Hasanoglu, Alev

Vitamin A status and factors associated in healthy school-age children

CLINICAL NUTRITION

IF7.4

2014-06-01

PREAI

Vuralli, Dogus; Tumer, Leyla; Hasanoglu, Alev; Biberoglu, Gursel; Pasaoglu, Hatice

Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing

METABOLIC BRAIN DISEASE

IF3.5

2014-01-11

PREAI

Ezgu, Fatih; Ciftci, Bahattin; Topcu, Burcu; Adiyaman, Gulcan; Gokmenoglu, Hatice; Kucukcongar, Aynur; Kasapkara, Cigdem; Biberoglu, Gorsel; Tumer, Leyla; Hasanoglu, Alev

Serum carnitine levels in newborns with perinatal asphyxia and relation to neurologic prognosis

NUTRITIONAL NEUROSCIENCE

IF3.6

2013-09-05

PREAI

Ezgü, FS; Atalay, Y; Hasanoglu, A; Gücüyener, K; Biberoglu, G; Koç, E; Ergenekon, E; Tümer, L

N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia

EUROPEAN JOURNAL OF PEDIATRICS

IF2.6

2011-01-05

PREAI

Kasapkara, Cigdem Seher; Ezgu, Fatih Suheyl; Okur, Ilyas; Tumer, Leyla; Biberoglu, Gursel; Hasanoglu, Alev