Academician profile · PROFESÖR
ALİ DURSUN
- TIP FAKÜLTESİ
- DAHİLİ TIP BİLİMLERİ BÖLÜMÜ
Scopus (SJR)
Q1
27
Q2
30
Q3
16
Q4
3
WoS (JCR)
Q1
17
Q2
20
Q3
24
Q4
15
TR Index
13
articles
Articles
- 2025 Comparison of Ketogenesis and Ketolysis Defects: A Retrospective Single-Center Study of 30 Patients
- 2025 High prevalence of low bone mineral density in young adults with phenylketonuria
- 2023 COVID-19 in inherited metabolic disorders: Clinical features and risk factors for disease severity
- 2023 Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy
- 2022 Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients
- 2021 Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings
- 2019 Imaging liver nodules in tyrosinemia type-1: A retrospective review of 16 cases in a tertiary pediatric hospital.
- 2019 Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect
- 2018 The genotypic and phenotypic spectrum of MTO1 deficiency
- 2016 GNAL MUTATİON mutation associated with familial childhood onset generalized dystonia title
- 2015 Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening
- 2014 Dursun Syndrome Due to G6PC3 Gene Defect has a Fluctuating Pattern in All Blood Cell Lines
- 2012 Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant
- 2012 Microarray based mutational analysis of patients with methylmalonic acidemia Identification of 10 novel mutations
- 2012 Identification of a Novel Twinkle Mutation in a Family With Infantile Onset Spinocerebellar Ataxia by Whole Exome Sequencing
- 2010 Mutations in the G6PC3 gene cause Dursun syndrome
- 2009 Zellweger syndrome with unusual findings non immune hydrops fetalis dermal erythropoiesis and hypoplastic toe nails
- 2009 Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency
- 2008 Does maternal knowledge impact blood phenylalanine concentration in Turkish children with phenylketonuria
- 2004 A boy with spastic paraparesis and dyspnea