Works matching AU Inci, Asli

Results: 48

HFE-Related Hereditary Hemochromatosis Is Not Invariably a Disease of Adulthood: Importance of Early Diagnosis and Phlebotomy in Childhood.

Published in:

2016

By:

Islek, Ali;
Inci, Asli;
Sayar, Ersin;
Yilmaz, Aygen;
Uzun, Ozlem Ceren;
Artan, Reha

Publication type:

journal article

Do cytokines play role in the pathogenesis of mucopolysaccharidosis.

Published in:

Medicine Science, 2021, v. 10, n. 4, p. 1492, doi. 10.5455/medscience.2021.09.312

By:

Inci, Asli;
Olgac, Asburce;
Demirtas, Canan;
Okur, Ilyas;
Biberoglu, Gursel;
Ezgu, Fatih Suheyl;
Tumer, 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

Vitamin D Levels and Bone Mineral Density in Inborn Errors of Metabolism Requiring Specialised Diets.

Published in:

Journal of the College of Physicians & Surgeons Pakistan, 2019, v. 29, n. 12, p. 1207, doi. 10.29271/jcpsp.2019.12.1207

By:

Olgac, Asburce;
Inci, Asli;
Okur, Ilyas;
Ezgu, Fatih;
Biberoglu, Gursel;
Tumer, Leyla

Publication type:

Article

Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye.

Published in:

Turkish Journal of Medical Sciences, 2025, v. 55, n. 3, p. 585, doi. 10.55730/1300-0144.6005

By:

ÖZSAYDI AKTAŞOĞLU, Ekin;
İNCİ, Aslı;
ÖKTEM, Rıdvan Murat;
BİBEROĞLU1 OKUR, Gürsel İlyas;
EZGÜ, Fatih Süheyl;
CENGİZ ERGİN, Filiz Başak;
AKGÜN, Abdurrahman;
ARSLAN, Nur;
AYDIN, Halil İbrahim;
BOZACI, Ayşe Ergül;
ÇOKER, Mahmut;
EMİNOĞLU, Fatma Tuba;
ERSOY, Melike;
GÖKSOY, Emine;
KADIOĞLU YILMAZ, Banu;
KAĞNICI, Mehtap;
KILIÇ, Mustafa;
ÖNENLİ MUNGAN, Neslihan;
ÖZTÜRK HIŞMİ, Burcu;
SOYLU ÜSTKOYUNCU, Pembe

Publication type:

Article

Sudden Unilateral Vision Loss.

Published in:

Texas Heart Institute Journal, 2013, v. 40, n. 4, p. 453

By:

Nazli, Yunus;
Colak, Necmettin;
Atar, Inci Asli;
Alpay, Mehmet Fatih;
Haltas, Hacer;
Eryonucu, Beyhan;
Cakir, Omer

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

The effect of triheptanoin treatment on clinical and laboratory outcomes in patients with long-chain fatty acid oxidation disorder.

Published in:

European Journal of Pediatrics, 2025, v. 184, n. 6, p. 1, doi. 10.1007/s00431-025-06216-3

By:

Köse, Engin;
İnci, Aslı;
Yazıcı, Havva;
Zübarioğlu, Tanyel;
Kılavuz, Sebile;
Çıkı, Kısmet;
Er, Esra;
Balcı, Mehmet Cihan;
Kahraman, Ayça Burcu;
Önenli Mungan, Neslihan;
Aktuğlu Zeybek, Çiğdem;
Kalkan Uçar, Sema;
Tümer, Leyla;
Eminoğlu, Fatma Tuba

Publication type:

Article

Effects of metoprolol therapy on cardiac troponin-I levels after elective percutaneous coronary interventions.

Published in:

European Heart Journal, 2006, v. 27, n. 5, p. 547, doi. 10.1093/eurheartj/ehi709

By:

Atar, Ilyas;
Korkmaz, Mehmet Emin;
Atar, Inci Asli;
Gulmez, Oyku;
Ozin, Bulent;
Bozbas, Huseyin;
Erol, Tansel;
Aydinalp, Alp;
Yildirir, Aylin;
Yucel, Muammer;
Muderrisoglu, Haldun

Publication type:

Article

Endothelial dysfunction in prediabetes and diabetes mellitus in patients with normal coronary arteries.

Published in:

BMC Cardiovascular Disorders, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12872-024-04314-y

By:

Atar, Asli Inci;
Altuner, Tugba Kayhan;
Bozbas, Huseyin;
Atar, İlyas;
Korkmaz, Mehmet E.

Publication type:

Article

Fosfomevalonat kinaz enzim eksikliğine bağlı hiperimmünoglobulin D sendromu mu?

Published in:

Journal of Turkish Society for Rheumatology, 2022, v. 14, p. 29

By:

Yıldız, Çisem;
Gezgin Yıldırım, Deniz;
İnci, Aslı;
Tümer, Leyla;
Cengiz Ergin, Filiz Başak;
Yayla, Emine Nur Sunar;
Esmeray Şenol, Pelin;
Karaçayır, Nihal;
Eğritaş Gürkan, Ödül;
Okur, İlyas;
Ezgü, Fatih S.;
Bakkaloğlu, Sevcan A.

Publication type:

Article

A 7-year-old boy with scurvy owing to coeliac disease.

Published in:

Paediatrics & International Child Health, 2024, v. 44, n. 2, p. 63, doi. 10.1080/20469047.2024.2347001

By:

Küçükalİ, Batuhan;
Bayrak, Harun;
Yıldırım, Deniz Gezgin;
İnci, Aslı;
Bakkaloğlu, Sevcan A.;
Tümer, Leyla

Publication type:

Article

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

A Patient with a Novel RARS2 Variant Exhibiting Liver Involvement as a New Clinical Feature and Review of the Literature.

Published in:

Molecular Syndromology, 2022, v. 13, n. 3, p. 226, doi. 10.1159/000519604

By:

Sevinç, Selin;
İnci, Aslı;
Ezgü, Fatih S.;
Eminoğlu, Fatma T.

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

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

Correction: Intestinal microbiota composition of children with glycogen storage Type I patients.

Published in:

2025

By:

Gokalp, Sabire;
Dinleyici, Ener Cagri;
Muluk, Cansu;
Inci, Asli;
Aktas, Emine;
Okur, Ilyas;
Ezgu, Fatih;
Tumer, Leyla

Publication type:

Correction Notice

Correction: Intestinal microbiota composition of children with glycogen storage Type I patients.

Published in:

2025

By:

Gokalp, Sabire;
Dinleyici, Ener Cagri;
Muluk, Cansu;
Inci, Asli;
Aktas, Emine;
Okur, Ilyas;
Ezgu, Fatih;
Tumer, Leyla

Publication type:

Correction Notice

Intestinal microbiota composition of children with glycogen storage Type I patients.

Published in:

European Journal of Clinical Nutrition, 2024, v. 78, n. 5, p. 407, doi. 10.1038/s41430-024-01412-0

By:

Gokalp, Sabire;
Dinleyici, Ener Cagri;
Muluk, Cansu;
Inci, Asli;
Aktas, Emine;
Okur, Ilyas;
Ezgu, Fatih;
Tumer, Leyla

Publication type:

Article

Dietary Fiber Supplementation in Type I Glycogen Storage Disease; Could it Contribute to a Better Metabolic Control?

Published in:

Journal of Current Pediatrics / Guncel Pediatri, 2023, v. 21, n. 3, p. 228, doi. 10.4274/jcp.2023.56255

By:

Şanlı, Merve Emecen;
Aktaş, Emine;
İnci, Aslı;
Okur, İlyas;
Ezgü, Fatih;
Tümer, Leyla

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

A new NBIA patient from Turkey with homozygous C19ORF12 mutation.

Published in:

2019

By:

Kasapkara, Çiğdem Seher;
Tümer, Leyla;
Gregory, Allison;
Ezgü, Fatih;
İnci, Aslı;
Derinkuyu, Betül Emine;
Fox, Rachel;
Rogers, Caleb;
Hayflick, Susan

Publication type:

Letter

Assessment of auditory functions in patients with hepatic glycogen storage diseases.

Published in:

Turkish Journal of Pediatrics, 2022, v. 64, n. 4, p. 658, doi. 10.24953/turkjped.2022.142

By:

Şanlı, Merve Emecen;
Gökay, Nuriye Yıldırım;
Tutar, Hakan;
Gündüz, Bülent;
Özsaydı, Ekin;
Kılıç, Ayşe;
İnci, Aslı;
Okur, İlyas;
Ezgü, Fatih;
Tümer, Leyla

Publication type:

Article

COVID-19 Infection in Patients with Gaucher Disease.

Published in:

Medical Records, 2023, v. 5, n. 2, p. 231, doi. 10.37990/medr.1139421

By:

Urey, Burcu Civelek;
Kasapkara, Cigdem Seher;
Inci, Asli;
Gunduz, Mehmet;
Parlakay, Aslinur Ozkaya;
Olgac, Asburce;
Tumer, Leyla

Publication type:

Article

Introducing a Novel Pacemaker‐Mediated Arrhythmia: The Pseudo‐RNRVAS Arising From Atrial Capture Challenges.

Published in:

Annals of Noninvasive Electrocardiology, 2024, v. 29, n. 6, p. 1, doi. 10.1111/anec.70033

By:

Atar, Asli Inci;
Atar, Ilyas

Publication type:

Article

Potential triggering of repetitive nonreentrant ventriculoatrial synchrony by loss of atrial capture.

Published in:

Annals of Noninvasive Electrocardiology, 2023, v. 28, n. 1, p. 1, doi. 10.1111/anec.13033

By:

Atar, Asli Inci;
Atar, Ilyas

Publication type:

Article

Advances in Immune Tolerance Induction in Enzyme Replacement Therapy.

Published in:

Pediatric Drugs, 2024, v. 26, n. 3, p. 287, doi. 10.1007/s40272-024-00627-9

By:

İnci, Aslı;
Ezgü, Fatih Süheyl;
Tümer, Leyla

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

Event-based real-life outcomes of patients with non-neuronopathic Gaucher disease receiving ert.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03690-8

By:

Akyüz, Ayşe;
İnci, Aslı;
Okur, İlyas;
Tümer, Leyla;
Ezgü, Fatih Süheyl

Publication type:

Article

Relationship Between the Flow-Mediated Dilatation of the Human Brachial Artery and Blood Biomarkers Related to the Endothelial Function in Cardiovascular Diseases.

Published in:

Erciyes Medical Journal / Erciyes Tip Dergisi, 2021, v. 43, n. 1, p. 75, doi. 10.14744/etd.2020.90592

By:

Usanmaz, Suzan Emel;
Atar, İnci Aslı;
Aksöyek, Ayşen;
Tola, Muharrem;
Kubat, Emre;
Altuner, Tuğba Kayhan;
Bozbaş, Hüseyin;
Sevük, Utkan;
Korkmaz, Mehmet Emin;
Yılmaz, Emine Demirel

Publication type:

Article

Effect of empagliflozin treatment on laboratory and clinical findings of patients with glycogen storage disease type Ib: first study from Türkiye.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2025, v. 38, n. 4, p. 391, doi. 10.1515/jpem-2024-0556

By:

Köse, Engin;
Özçay, Figen;
Aydın, Halil İbrahim;
Kasapkara, Çiğdem Seher;
İnci, Aslı;
Küçükcongar Yavaş, Aynur;
Tümer, Leyla;
Eminoğlu, Fatma Tuba

Publication type:

Article

New perspectives for the treatment and follow-up of glycogen storage disease type V: DL-3-hydroxybutyric acid with modified Atkins diet and quadriceps femoris shear wave elastography.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 9, p. 820, doi. 10.1515/jpem-2024-0284

By:

Özsaydı Aktaşoğlu, Ekin;
Kılıç, Ayşe;
Emecen Şanlı, Merve;
İnci, Aslı;
Aktaş, Emine;
Akdulum, İsmail;
Yaylı, Nezih;
Okur, İlyas;
Ezgü, Fatih Süheyl;
Tümer, Leyla

Publication type:

Article

A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 6, p. 571, doi. 10.1515/jpem-2023-0569

By:

Gokalp, Sabire;
Inci, Asli;
Kilic, Ayse;
Ozsaydi, Ekin;
Altun, Ayse Nur;
Demir, Fevzi;
Ergin, Filiz Basak;
Ozbek, Mehmet Nuri;
Okur, Ilyas;
Ezgu, Fatih;
Tumer, Leyla

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

Endocrinological, immunological and metabolic features of patients with Fabry disease under therapy.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 7, p. 650, doi. 10.1515/jpem-2023-0105

By:

Emecen Sanli, Merve;
Kilic, Ayse;
Inci, Asli;
Okur, Ilyas;
Ezgu, Fatih;
Tumer, Leyla

Publication type:

Article

Endocrinological, immunological and metabolic features of patients with Fabry disease under therapy.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2023, p. 1, doi. 10.1515/jpem-2023-0105

By:

Emecen Sanli, Merve;
Kilic, Ayse;
Inci, Asli;
Okur, Ilyas;
Ezgu, Fatih;
Tumer, Leyla

Publication type:

Article

Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 4, p. 497, doi. 10.1515/jpem-2021-0732

By:

Emecen Sanli, Merve;
Cengiz, Basak;
Kilic, Ayse;
Ozsaydi, Ekin;
Inci, Asli;
Okur, Ilyas;
Tumer, Leyla;
Lebigot, Elise;
Ezgu, Fatih

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

First successful concomitant therapy of immune tolerance induction therapy and desensitization in a CRIM-negative infantile Pompe patient.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 2, p. 273, doi. 10.1515/jpem-2021-0133

By:

Emecen Sanli, Merve;
Ertoy Karagol, Hacer Ilbilge;
Kilic, Ayse;
Aktasoglu, Ekin;
Inci, Asli;
Okur, Ilyas;
Ezgu, Fatih;
Tumer, 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

Familial hyperphosphatemic tumoral calcinosis in an unusual and usual sites and dramatic improvement with the treatment of acetazolamide, sevelamer and topical sodium thiosulfate.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 6, p. 813, doi. 10.1515/jpem-2020-0359

By:

Emecen Sanli, Merve;
Kilic, Ayse;
Aktasoglu, Ekin;
Inci, Asli;
Okur, Ilyas;
Ezgu, Fatih;
Tumer, Leyla

Publication type:

Article

Serum uric acid level is an independent risk factor for presence of calcium in coronary arteries: an observational case-controlled study.

Published in:

Anatolian Journal of Cardiology / Anadolu Kardiyoloji Dergisi, 2013, v. 13, n. 2, p. 139, doi. 10.5152/akd.2013.039

By:

Atar, Aslı İnci;
Yılmaz, Ömer Çağlar;
Akın, Kayihan;
Selçoki, Yusuf;
Er, Okan;
Eryonucu, Beyhan

Publication type:

Article

Is there any relationship between coronary artery disease and postprandial triglyceride levels?

Published in:

Anatolian Journal of Cardiology / Anadolu Kardiyoloji Dergisi, 2011, v. 11, n. 3, p. 201, doi. 10.5152/akd.2011.053

By:

Atar, Inci Aslı;
Atar, İlyas;
Aydınalp, Alp;
Ertan, Çağatay;
Bozbaş, Hüseyin;
Özin, Bülent;
Yıldırır, Aylin;
Müderrisoğlu, Haldun

Publication type:

Article

Is lysosomal acid lipase activity associated with the presence and severity of coronary artery disease?

Published in:

Herz (0340-9937), 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

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

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

Long-Term Experience with Anaphylaxis and Desensitization to Alglucosidase Alfa in Pompe Disease.

Published in:

International Archives of Allergy & Immunology, 2023, v. 184, n. 4, p. 370, doi. 10.1159/000528343

By:

Ertoy Karagol, Hacer Ilbilge;
Inci, Asli;
Terece, Sinem Polat;
Kilic, Ayse;
Demir, Fevzi;
Yapar, Dilek;
Koken, Gizem;
Okur, Ilyas;
Ezgu, Fatih Suheyl;
Tumer, Leyla;
Bakirtas, Arzu

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