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Pterin Profiling in Serum, Dried Blood Spot, and Urine Samples Using LC-MS/MS in Patients with Inherited Hyperphenylalaninemia.
Published in:
Molecular Syndromology, 2024, v. 15, n. 3, p. 185, doi. 10.1159/000535853
By:
- Öktem, Rıdvan Murat;
- İnci, Aslı;
- Bayrak, Harun;
- Demir, Fevzi;
- Biberoğlu, Gürsel;
- Maviş, Murat Emrah;
- Gürsu, Gökçe Göksu;
- Yılmaz, Hazal;
- Okur, İlyas;
- Ezgü, Fatih Suheyl;
- Tümer, Leyla
Publication type:
Article
The effect of hypothyroidism, hyperthyroidism, and their treatment on parameters of oxidative stress and antioxidant status.
Published in:
Clinical Chemistry & Laboratory Medicine, 2008, v. 46, n. 7, p. 1004, doi. 10.1515/CCLM.2008.183
By:
- Erdamar, Hüsamettin;
- Demirci, Hüseyin;
- Yaman, Halil;
- Erbil, M. Kemal;
- Yakar, Tolga;
- Sancak, Banu;
- Elbeg, Sehri;
- Biberoğlu, Gürsel;
- Yetkin, &,1#x0130;lhan
Publication type:
Article
Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2739, doi. 10.1002/ajmg.a.62247
By:
- İnci, Aslı;
- Cengiz, Başak;
- Biberoğlu, Gürsel;
- Okur, İlyas;
- Arhan, Ebru;
- Öner, Ali Yusuf;
- Kasapkara, Çiğdem Seher;
- Küçükçongar, Aynur;
- Tümer, Leyla;
- Ezgu, Fatih
Publication type:
Article
Autism: Screening of inborn errors of metabolism and unexpected results.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2021, v. 14, n. 5, p. 887, doi. 10.1002/aur.2486
By:
- İnci, Aslı;
- Özaslan, Ahmet;
- Okur, İlyas;
- Biberoğlu, Gürsel;
- Güney, Esra;
- Ezgü, Fatih Süheyl;
- Tümer, Leyla;
- İşeri, Elvan
Publication type:
Article
A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase.
Published in:
Metabolic Brain Disease, 2019, v. 34, n. 2, p. 495, doi. 10.1007/s11011-019-0391-y
By:
- Kılıç, Mustafa;
- Kasapkara, Çiğdem Seher;
- Kılavuz, Sebile;
- Mungan, Neslihan Önenli;
- Biberoğlu, Gürsel
Publication type:
Article
Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing.
Published in:
Metabolic Brain Disease, 2014, v. 29, n. 1, p. 211, doi. 10.1007/s11011-014-9482-y
By:
- Ezgu, Fatih;
- Çiftci, Bahattin;
- Topçu, Burcu;
- Adıyaman, Gülcan;
- Gökmenoğlu, Hatice;
- Küçükçongar, Aynur;
- Kasapkara, Çiğdem;
- Biberoğlu, Gürsel;
- Tümer, Leyla;
- Hasanoğlu, Alev
Publication type:
Article
The Relationship between Inflammation and Serum Estrogen, Testosterone, and DHEA-S Levels in Obstructive Coronary Artery Disease.
Published in:
Gazi Medical Journal, 2021, v. 32, n. 2, p. 171, doi. 10.12996/gmj.2021.38
By:
- Karaaslan, Özge Çakmak;
- Ünlü, Serkan;
- Topal, Salih;
- Biberoğlu, Gürsel;
- Biberoğlu, Kutay;
- Çengel, Atiye
Publication type:
Article
Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 5, p. 413, doi. 10.1515/jpem-2023-0504
By:
- Kilic, Ayse;
- Emecen Sanli, Merve;
- Ozsaydı Aktasoglu, Ekin;
- Gokalp, Sabire;
- Biberoğlu, Gürsel;
- Inci, Aslı;
- Okur, Ilyas;
- Suheyl Ezgu, Fatih;
- Tumer, Leyla
Publication type:
Article
Diagnostic value of plasma lysosphingolipids levels in a Niemann–Pick disease type C patient with transient neonatal cholestasis.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 5, p. 681, doi. 10.1515/jpem-2021-0580
By:
- Bulut, Fatma Derya;
- Bozbulut, Neslihan Ekşi;
- Özalp, Özge;
- Dalgiç, Buket;
- Mungan, Neslihan Önenli;
- Koç Uçar, Habibe;
- Biberoğlu, Gürsel
Publication type:
Article
Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 4, p. 451, doi. 10.1515/jpem-2021-0278
By:
- İnci, Aslı;
- Kılıç Yıldırım, Gonca;
- Cengiz Ergin, Filiz Başak;
- Sarı, Sinan;
- Eğritaş Gürkan, Ödül;
- Okur, İlyas;
- Biberoğlu, Gürsel;
- Bükülmez, Ayşegül;
- Ezgü, Fatih Süheyl;
- Dalgıç, Buket;
- Tümer, Leyla
Publication type:
Article
Two patients from Turkey with a novel variant in the GM2A gene and review of the literature.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 6, p. 805, doi. 10.1515/jpem-2020-0655
By:
- İnci, Aslı;
- Cengiz Ergin, Filiz Başak;
- Biberoğlu, Gürsel;
- Okur, İlyas;
- Ezgü, Fatih Süheyl;
- Tümer, Leyla
Publication type:
Article
Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity?
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 11/12, p. 1149, doi. 10.1515/jpem-2013-0066
By:
- Tümer, Leyla;
- Kasapkara, Çiğdem Seher;
- Biberoğlu,, Gürsel;
- Ezgü, Fatih;
- Hasanoğlu, Alev
Publication type:
Article
Homocysteine, Fibrinogen and Anti-ox-LDL Antibody Levels as Markers of Atherosclerosis in Prepubertal Obese Children.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2009, v. 22, n. 10, p. 915
By:
- Ezgü, Fatih;
- Tümer, Leyla;
- Özbay, Ferda;
- Hasanoğlu, Alev;
- Biberoğlu, Gürsel;
- Aybay, Cemalettin
Publication type:
Article
The first case with FBXL4 mutation successfully treated with a parenteral ketogenic diet for lactic acidosis.
Published in:
JPEN Journal of Parenteral & Enteral Nutrition, 2021, v. 45, n. 8, p. 1788, doi. 10.1002/jpen.2121
By:
- İnci, Aslı;
- Aktaş, Emine;
- Cengiz Ergin, Filiz Başak;
- Okur, İlyas;
- Biberoğlu, Gürsel;
- Ezgü, Fatih Süheyl;
- Tümer, Leyla
Publication type:
Article
Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series.
Published in:
2021
By:
- İnci, Aslı;
- Okur, İlyas;
- Tümer, Leyla;
- Biberoğlu, Gürsel;
- Öktem, Murat;
- Ezgü, Fatih
Publication type:
journal article
Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature.
Published in:
Turkish Journal of Pediatrics, 2014, v. 56, n. 4, p. 418
By:
- Nur, Banu Güzel;
- Mıhçı, Ercan;
- Pepe, Stefano;
- Biberoğlu, Gürsel;
- Ezgü, Fatih Süheyl;
- Ballabio, Andrea;
- Öztekin, Osman;
- Dursun, Oğuz
Publication type:
Article
The levels of asymmetric dimethylarginine, homocysteine and carotid intima-media thickness in hypercholesterolemic children.
Published in:
Turkish Journal of Pediatrics, 2011, v. 53, n. 5, p. 522
By:
- Hasanoğlu, Alev;
- Okur, İlyas;
- Ören, Ayşe Ceyda;
- Biberoğlu, Gürsel;
- Oktar, Suna;
- Eminoğlu, Fatma Tuba;
- Tümer, Leyla
Publication type:
Article
Beneficial Effects of Modified Atkins Diet in Glycogen Storage Disease Type IIIa.
Published in:
Annals of Nutrition & Metabolism, 2020, v. 76, n. 4, p. 233, doi. 10.1159/000509335
By:
- Olgac, Asburce;
- İnci, Aslı;
- Okur, İlyas;
- Biberoğlu, Gürsel;
- Oğuz, Deniz;
- Ezgü, Fatih Süheyl;
- Kasapkara, Çiğdem Seher;
- Aktaş, Emine;
- Tümer, Leyla
Publication type:
Article
An ultra-rare cause of severe hypotonia mimicking Pompe disease in an infant: RRM2B related mitochondrial DNA depletion syndrome with a novel mutation.
Published in:
Neurology Asia, 2022, v. 27, n. 1, p. 199, doi. 10.54029/2022zpv
By:
- İnci, Aslı;
- Okur, İlyas;
- Demir, Ercan;
- Biberoğlu, Gürsel;
- Tümer, Leyla;
- Serdaroğlu, Ayşe;
- Ezgü, Fatih Süheyl
Publication type:
Article
Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?
Published in:
Journal of Bone & Mineral Metabolism, 2021, v. 39, n. 4, p. 598, doi. 10.1007/s00774-020-01193-z
By:
- İnci, Aslı;
- Ergin, Filiz Başak Cengiz;
- Yüce, Burcu Topcu;
- Çiftçi, Bahattin;
- Demir, Ercan;
- Buyan, Necla;
- Okur, İlyas;
- Biberoğlu, Gürsel;
- Öktem, Rıdvan Murat;
- Tümer, Leyla;
- Ezgü, Fatih Süheyl
Publication type:
Article
Ultra-Rare Disorder in a Young Girl with Lipodystrophy: Analbuminemia.
Published in:
2021
By:
- İnci, Aslı;
- Arslan, Burak;
- Okur, İlyas;
- Biberoğlu, Gürsel;
- Şanlı, Merve Emecan;
- Aktaşoğlu, Ekin;
- Kılıç, Ayşe;
- Tümer, Leyla;
- Ezgü, Fatih Süheyl
Publication type:
Letter
"Double Hit" Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages.
Published in:
Journal of Pediatric Research, 2018, v. 5, p. 47, doi. 10.4274/jpr.55477
By:
- Olgaç, Asburçe;
- Tümer, Leyla;
- Ceylaner, Serdar;
- Biberoğlu, Gürsel;
- Hasanoğlu, Alev
Publication type:
Article
PROPIONYLCARNITINE AND FREE CARNITINE ARE NEW BIOMARKERS IN THE FOLLOW-UP PERIOD OF MUCOPOLYSACCARIDOSIS TO SCREEN OXIDATIVE STRESS.
Published in:
Medical Journal of Suleyman Demirel University, 2021, v. 28, n. 4, p. 565, doi. 10.17343/sdutfd.928607
By:
- İNCİ, Aslı;
- OLGAC, Asburce;
- GENÇ DERİN, Betül;
- BİBEROĞLU, Gürsel;
- OKUR, İlyas;
- EZGÜ, Fatih Süheyl;
- TÜMER, Leyla
Publication type:
Article
Is lysosomal acid lipase activity associated with the presence and severity of coronary artery disease?
Published in:
Herz, 2024, v. 49, n. 1, p. 75, doi. 10.1007/s00059-023-05200-7
By:
- Kızıltunç, Emrullah;
- Gökalp, Sabire;
- Biberoğlu, Gürsel;
- Yalçın, Yakup;
- Cihan, Burcu;
- Öktem, Rıdvan M;
- İnci, Aslı;
- Tümer, Leyla;
- Yalçın, Mehmet R;
- Abacı, Adnan
Publication type:
Article
Serum leptin, oxidized low density lipoprotein and plasma asymmetric dimethylarginine levels and their relationship with dyslipidaemia in adolescent girls with polycystic ovary syndrome.
Published in:
Clinical Endocrinology, 2007, v. 67, n. 1, p. 129, doi. 10.1111/j.1365-2265.2007.02849.x
By:
- Demirel, Fatma;
- Bideci, Aysun;
- Cinaz, Peyami;
- Çamurdan, M. Orhun;
- Biberoğlu, Gürsel;
- Yesilkaya, Ediz;
- Hasanoğlu, Alev
Publication type:
Article
Lysinuric protein intolerance: an overlooked diagnosis.
Published in:
Egyptian Journal of Medical Human Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s43042-020-00084-2
By:
- Olgac, Asburce;
- Yenicesu, Idil;
- Ozgul, Rıza Köksal;
- Biberoğlu, Gürsel;
- Tümer, Leyla
Publication type:
Article

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