Invisible burden of COVID-19: enzyme replacement therapy disruptions AB Kahraman, Y Yıldız, K Çıkı, HT Akar, İ Erdal, A Dursun, A Tokatlı, ... Journal of Pediatric Endocrinology and Metabolism 34 (5), 539-545, 2021 | 17 | 2021 |
Bacteremia caused by Rothia mucilaginosa after pneumonia, in a patient with hematopoietic stem cell transplantation C Bayhan, EDA KARADAĞ ÖNCEL, A Cengiz, A Oksuz, G Aydin Archivos argentinos de pediatria 114 (5), 2016 | 5 | 2016 |
Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity A Dursun, D Yalnizoglu, DY Yilmaz, KK Oguz, B Gülbakan, C Koşukcu, ... European Journal of Medical Genetics 64 (11), 104340, 2021 | 4 | 2021 |
COVID-19-related anxiety in phenylketonuria patients H Akar, Y Karaboncuk, K Çıkı, A Kahraman, İ Erdal, T Coşkun, A Tokatlı, ... Turkish Journal of Pediatrics 63 (5), 2021 | 3 | 2021 |
Advantage of the subcutaneous immunoglobulin replacement therapy in primary immunodeficient patients with or without secondary protein loss P Gur-Cetinkaya, D Cagdas-Ayvaz, A Oksuz, A Ertoy, U Hayran, F Ozkan, ... Turkish Journal of Pediatrics 60 (3), 2018 | 3 | 2018 |
Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy K Çıkı, Y Yıldız, AB Kahraman, RK Özgül, T Coşkun, A Dursun, A Tokatlı, ... Molecular Genetics and Metabolism 140 (3), 107706, 2023 | 2 | 2023 |
COVID-19 in inherited metabolic disorders: Clinical features and risk factors for disease severity AB Kahraman, Y Yıldız, K Çıkı, I Erdal, HT Akar, A Dursun, A Tokatlı, ... Molecular Genetics and Metabolism 139 (2), 107607, 2023 | 2 | 2023 |
Two tales of LPIN1 deficiency: from fatal rhabdomyolysis to favorable outcome of acute compartment syndrome AB Kahraman, B Karakaya, Y Yıldız, S Kamaci, S Kesici, PO Simsek-Kiper, ... Neuromuscular Disorders 32 (11-12), 931-934, 2022 | 2 | 2022 |
Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients HT Akar, Y Yıldız, G Güvenkaya, K Çıkı, AB Kahraman, İ Erdal, T Coşkun, ... Balkan medical journal 39 (5), 345, 2022 | 2 | 2022 |
Long-term clinical evaluation of patients with alpha-mannosidosis–A multicenter study E Köse, ÇS Kasapkara, A İnci, Y Yıldız, İS Kara, AB Kahraman, L Tümer, ... European Journal of Medical Genetics, 104927, 2024 | 1 | 2024 |
Successful management of rhabdomyolysis with triheptanoin in a child with severe long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency AB Kahraman, Y Yildiz, H Gokmen-Ozel, S Kadayifcilar, S Sivri Neuromuscular Disorders 33 (4), 315-318, 2023 | 1 | 2023 |
Novel cranial imaging findings and a splice-site variant in a patient with tyrosinemia type III, and a summary of published cases AB Kahraman, HT Akar, N Güleray Lafcı, Y Yıldız, A Tokatlı Molecular Syndromology 13 (3), 193-199, 2022 | 1 | 2022 |
Inborn Errors of Fatty Acid Metabolism That Affect Muscle AB KAHRAMAN, Y YILDIZ Turkiye Klinikleri Pediatric Metabolism Diseases-Special Topics 5 (1), 18-26, 2024 | | 2024 |
Inherited Metabolic Myopathies-2024 E Özsaydı Aktaşoğlu, L Tümer, A Yar Sağlam, D Usta Salımı, ... TÜRKİYE KLİNİKLERİ, 2024 | | 2024 |
Clinical and Osteopetrosis-Like Radiological Findings in Patients with Leukocyte Adhesion Deficiency Type III AB Kahraman, I Yaz, R Gocmen, S Aytac, A Metin, SS Kilic, I Tezcan, ... Journal of clinical immunology 43 (6), 1250-1258, 2023 | | 2023 |
Fosfoglukomutaz-1 Geninde Homozigot Mutasyon Saptanan İki Kardeş Olgu SÖZ YILDIZ, AB KAHRAMAN, RK ÖZGÜL, A DURSUN, D YALNIZOĞLU Turkiye Klinikleri Scientific Meetings 5 (3), 79-81, 2023 | | 2023 |
Nadir Bir Konjenital Glikozilasyon Defekti: Srd5a3 Gen Defekti Olan İki Kardeş AB KAHRAMAN, Y YILDIZ, S SİVRİ, A TOKATLI, A DURSUN Turkiye Klinikleri Scientific Meetings 5 (3), 87-88, 2023 | | 2023 |
Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience AB Kahraman, PO Simsek‐Kiper, GE Utine, K Boduroglu American Journal of Medical Genetics Part A 188 (8), 2367-2375, 2022 | | 2022 |
Mitokondriyal Ensefalopatiler AB KAHRAMAN, D YALNIZOĞLU Turkiye Klinikleri Pediatric Metabolism Diseases-Special Topics 3 (3), 36-45, 2022 | | 2022 |
The effect of the COVID-19 pandemic on newborn hyperphenylalaninemia screening program. AB Kahraman, K Çıkı, Y Yıldız, A Dursun, HS Sivri, A Tokatlı, T Coşkun | | 2022 |