Ali Dursun

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 11

Top Topics

Cerebrospinal Fluid

High Resolution Mass Spectrometry

Top Venues

American journal of medical genetics. Part A

Journal of pediatric endocrinology & metabolism : JPEM

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Metabolic brain disease

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)
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)
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)
Dogus Vuralli, Yilmaz Yildiz, Zeynep Alev Ozon, Ali Dursun, Elmas Nazlı Gonç, Ayşegül Tokatlı, Hatice Serap Sivri, Mehmet Alikasifoglu
Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency Journal of clinical research in pediatric endocrinology 14 (3) (2022)
Yagmur Unsal, Murat Yurdakok, Şule Yiğit, Hasan Tolga Celik, Ali Dursun, Hatice Serap Sivri, Aysegul Tokatli, Turgay Coşkun
Organic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolism. Journal of pediatric endocrinology & metabolism : JPEM 35 (11) (2022)
Yilmaz Yildiz, Can Koşukcu, Damla Aygün, Meltem Akcaboy, Fatma Zehra Oztek Celebi, Yasemin Tasci Yildiz, Gulseren Sahin, Caner Aytekin, Deniz Yüksel, İncilay Lay, Rıza Köksal Özgül, Ali Dursun
Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings. Clinical genetics 100 (3) (2021)
Kismet Çıkı, Yilmaz Yildiz, Didem Yücel Yılmaz, Emine Pektaş, Ayşegül Tokatlı, Rıza Köksal Özgül, Hatice Serap Sivri, Ali Dursun
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant. Metabolic brain disease 36 (6) (2021)
Elif Ballikaya, Yilmaz Yildiz, Hatice Serap Sivri, Aysegul Tokatli, Ali Dursun, Seval Olmez, Turgay Coskun, Meryem Uzamis Tekcicek
Oral health status of children with phenylketonuria. Journal of pediatric endocrinology & metabolism : JPEM 33 (3) (2020)
Yilmaz Yildiz, Mutluay Arslan, Gökalp Çelik, Çiğdem Seher Kasapkara, Serdar Ceylaner, Ali Dursun, Hatice Serap Sivri, Turgay Coşkun, Ayşegül Tokatlı
Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe. American journal of medical genetics. Part A 182 (4) (2020)
Ali Dursun, Dilek Yalnızoğlu, Rıza K Özgül, Kader Karlı Oğuz, Didem Yücel-Yılmaz
Clinical highlights of a very rare phospolipid remodeling disease due to MBOAT7 gene defect. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 183 (1) (2019)