Yilmaz Yildiz (Yılmaz Yıldız)

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 20

Top Topics

Peritoneal Dialysis

Prognostic Factors

Replacement Therapy

Chronic Kidney Disease

Top Venues

Journal of pediatric endocrinology & metabolism : JPEM

Journal of clinical research in pediatric endocrinology

European journal of pediatrics

Journal of neurology

This page only lists publications with an associated author ORCID identifier.

Publications

Izzet Erdal, Yilmaz Yildiz, Oya Kuseyri Hübschmann, Dorothea Haas, Ceren Günbey, İlker Ertuğrul, Dilek Yalnızoğlu
Dihydropyrimidinase deficiency with atrioventricular septal defect: a case report. Journal of pediatric endocrinology & metabolism : JPEM (2024)
Izzet Erdal, Yilmaz Yildiz, Oya Kuseyri Hübschmann, Dorothea Haas, Ceren Günbey, İlker Ertuğrul, Dilek Yalnızoğlu
Dihydropyrimidinase deficiency with atrioventricular septal defect: a case report. Journal of pediatric endocrinology & metabolism : JPEM 37 (8) (2024)
Demet Baltu, Oğuzhan Serin, Tekin Aksu, Hayriye Hizarcioglu-Gulsen, Diclehan Orhan, Yilmaz Yildiz, Didem Yücel Yılmaz, Dogus Vuralli, Yelda Bilginer, Bora Gülhan, Ali Düzova
Membranoproliferative glomerulonephritis in a patient with lysinuric protein intolerance: lesson for the clinical nephrologist. Journal of nephrology (2024)
Yilmaz Yildiz, Oya Kuseyri Hübschmann, Ayça A Karaosmanoğlu, Filippo Manti, Meryem Karaca, Ida Vanessa D Schwartz, Roser Pons, Eduardo López-Laso, Natalia Alexandra Julia Palacios, Francesco Porta, Ivana I Kavecan, Mehmet Cihan Balcı, Marisela E Dy-Hollins, Suet-Na Wong, Mari Oppebøen, Leonardo Simão Medeiros, Leila Cristina Pedroso de Paula, Angeles García-Cazorla, Georg Friedrich Hoffmann, Kathrin Jeltsch, Vincenzo Leuzzi, Gülden Gökçay, Daniel Hübschmann, Inga Harting, Zeynep Alev Ozon, Hatice Serap Sivri, Thomas Opladen
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism. Journal of inherited metabolic disease (2023)
Berna Seker Yilmaz, Julien Baruteau, Nur Arslan, Halil Ibrahim Aydin, Magalie Barth, Ayse Ergul Bozaci, Anais Brassier, Ebru Canda, Aline Cano, Efstathia Chronopoulou, Grainne M Connolly, Lena Damaj, Charlotte Dawson, Dries Dobbelaere, Claire Douillard, Fatma Tuba Eminoglu, Sahin Erdol, Melike Ersoy, Sherry Fang, François Feillet, Gulden Gokcay, Emine Goksoy, Magali Gorce, Asli Inci, Banu Kadioglu, Fatih Kardas, Cigdem Seher Kasapkara, Gonca Kilic Yildirim, Deniz Kor, Melis Kose, Cécilia Marelli-Tosi, Helen Mundy, Siobhan O'Sullivan, Burcu Ozturk Hismi, Radha Ramachandran, Agathe Roubertie, Mehtap Sanlilar, Manuel Schiff, Srividya Sreekantam, Karolina M Stępień, Ozlem Uzun Unal, Yilmaz Yildiz, Tanyel Zubarioglu, Paul Gissen
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency. Life (Basel, Switzerland) 12 (11) (2022)
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)
Kismet Çıkı, H Tuna Akar, R Köksal Özgül, Basri Gülbakan, Yilmaz Yildiz
Perplexing Etiology of Hyperphenylalaninemia in an Infant Referred via Newborn Screening. Clinical chemistry 67 (10) (2022)
Sara Capiau, Joél Smet, Boel De Paepe, Yilmaz Yildiz, Mutluay Arslan, Olivier Stevens, Maxime Verschoore, Hedwig Stepman, Sara Seneca, Arnaud Vanlander
Clinical Heterogeneity in MT-ATP6 Pathogenic Variants: Same Genotype-Different Onset. Cells 11 (3) (2022)
Halil Tuna Akar, Yilmaz Yildiz, Gökhan Güvenkaya, Kismet Çıkı, Ayça Burcu Kahraman, Izzet Erdal, Turgay Coşkun, Hatice Serap Sivri, Ayşegül Tokatlı
Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients Balkan medical journal 39 (5) (2022)
Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, Yilmaz Yildiz, Mario Mastrangelo, Roser Pons, Jennifer Friedman, Saadet Mercimek-Mahmutoglu, Suet-Na Wong, Toni S Pearson, Dimitrios I Zafeiriou, Jan Kulhánek, Manju A Kurian, Eduardo López-Laso, Mari Oppebøen, Sebile Kılavuz, Tessa Wassenberg, Helly Goez, Sabine Scholl-Bürgi, Francesco Porta, Tomáš Honzík, René Santer, Alberto Burlina, Hatice Serap Sivri, Vincenzo Leuzzi, Georg F Hoffmann, Kathrin Jeltsch, Daniel Hübschmann, Sven F Garbade, null null, Angeles García-Cazorla, Thomas Opladen
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines. Nature communications 12 (1) (2021)
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)
Ayça Burcu Kahraman, Yilmaz Yildiz, Kısmet Çıkı, Halil Tuna Akar, İzzet Erdal, Ali Dursun, Ayşegül Tokatlı, Hatice Serap Sivri
Invisible burden of COVID-19: enzyme replacement therapy disruptions. Journal of pediatric endocrinology & metabolism : JPEM 34 (5) (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)
Yilmaz Yildiz, Leman Akcan Yıldız, Ali Dursun, Ayşegül Tokatlı, Turgay Coşkun, Özlem Tekşam, Hatice Serap Sivri
Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department. European journal of pediatrics 179 (7) (2020)
Mina Mısırlıgil, Yilmaz Yildiz, Onur Akın, Sevinç Odabaşı Güneş, Mutluay Arslan, Bülent Unay
A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome Journal of clinical research in pediatric endocrinology 13 (4) (2020)
Yilmaz Yildiz, Ayşegül Tokatlı
Comment on: "Multiple acyl‑CoA dehydrogenase deficiency in elderly carriers". Journal of neurology 267 (4) (2020)
Yilmaz Yildiz, Hatice Serap Sivri
Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management. European journal of pediatrics 178 (7) (2019)
Yilmaz Yildiz, Ebru Azapağası
Rare cause of high anion gap metabolic acidosis in an infant: Succinyl-CoA:3-ketoacid transferase deficiency. Journal of paediatrics and child health 55 (11) (2019)