Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement PT Kısa, GK Yildirim, BO Hismi, S Dorum, OY Kusbeci, A Topak, F Baydan, ... Metabolic brain disease 36 (6), 1201-1211, 2021 | 14 | 2021 |
Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients PT Kisa, M Gunduz, S Dorum, OU Uzun, NE Cakar, GK Yildirim, S Erdol, ... European journal of medical genetics 64 (5), 104197, 2021 | 14 | 2021 |
Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey P Teke Kisa, M Kose, O Unal, E Er, BO Hismi, FS Bulbul, E Kose, ... Journal of Pediatric Endocrinology and Metabolism 32 (7), 675-681, 2019 | 11 | 2019 |
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both? A Pennisi, A Rötig, CJ Roux, R Lévy, M Henneke, J Gärtner, PT Kisa, ... Journal of medical genetics 59 (2), 204-208, 2022 | 9 | 2022 |
Severe hyperchylomicronemia in two infants with novel APOC2 gene mutation E Kose, C Armagan, PT Kısa, H Onay, N Arslan Journal of Pediatric Endocrinology and Metabolism 31 (11), 1289-1293, 2018 | 8 | 2018 |
Evaluation of demographic and clinical characteristics of patients with mucopolysaccharidosis PT Kısa, E Köse, M Ateşoğlu, N Arslan The Journal of Pediatric Research 4 (2), 59, 2017 | 8 | 2017 |
Efficacy of Phenylalanine-and Tyrosine-Restricted Diet in Alkaptonuria Patients on Nitisinone Treatment: Case Series and Review of Literature P Teke Kisa, S Eroglu Erkmen, H Bahceci, Z Arslan Gulten, A Aydogan, ... Annals of Nutrition and Metabolism 78 (1), 48-60, 2022 | 7 | 2022 |
Inborn errors of immunity and metabolic disorders: current understanding, diagnosis, and treatment approaches P Teke Kisa, N Arslan Journal of Pediatric Endocrinology and Metabolism 34 (3), 277-294, 2021 | 7 | 2021 |
Serum level of biotin rather than the daily dosage is the main determinant of interference on thyroid function assays A Paketçi, E Köse, Ö Gürsoy Çalan, S Acar, P Teke, F Demirci, A Abacı, ... Hormone Research in Paediatrics 92 (2), 92-98, 2020 | 7 | 2020 |
Lipemia Retinalis Diagnosed Incidentally After Laser Photocoagulation Treatment for Retinopathy of Prematurity T Öztürk, EK Yiğitaslan, PT Kısa, H Onay, AO Saatci Turkish Journal of Ophthalmology 51 (5), 313, 2021 | 6 | 2021 |
Functional vitamin B12 deficiency in phenylketonuria patients and healthy controls: An evaluation with combined indicator of vitamin B12 status as a biochemical index M Akış, M Kant, İ Işık, PT Kısa, E Köse, N Arslan, H İşlekel Annals of Clinical Biochemistry 57 (4), 291-299, 2020 | 6 | 2020 |
Positive effects of ketogenic diet on weight control in children with obesity due to Prader–Willi syndrome P Teke Kısa, O Güzel, N Arslan, K Demir Clinical Endocrinology 98 (3), 332-341, 2023 | 3 | 2023 |
Inflammatory rheumatic diseases in patients with ochronotic arthropathy T Yuce Inel, PT Kisa, A Balci, S Uslu, Z Arslan, BO Hismi, U Ucar, N Arslan, ... Modern Rheumatology 31 (5), 1031-1037, 2021 | 3 | 2021 |
Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals T Zubarioglu, E Kıykım, E Köse, FT Eminoğlu, PT Kısa, MC Balcı, I Özer, ... Molecular genetics and metabolism 142 (2), 108493, 2024 | 2 | 2024 |
Frequency and status of depression and anxiety in mothers of children with inborn errors of metabolism with restricted diet, with and without risk of metabolic crises PT Kisa, OU Uzun, M Gunduz, FS Bulbul, E Kose, N Arslan Archives de Pédiatrie 28 (8), 702-706, 2021 | 2 | 2021 |
The effect of large neutral amino acids on blood phenylalanine levels in patients with classical phenylketonuria PT Kısa, E Köse, N Ören, N Arslan Journal of Basic and Clinical Health Sciences 1 (3), 79-81, 2017 | 2 | 2017 |
Role of surveillance screening in detecting tumor recurrence after treatment of childhood cancers PT Kısa, S Emir Turkish Archives of Pediatrics 56 (2), 147, 2021 | 1 | 2021 |
Fabry disease in familial Mediterranean fever according to the severity of the disease S Uslu, G Kabadayi, PT Kısa, TY Inel, Z Arslan, N Arslan, S Akar, F Onen, ... Reumatología Clínica (English Edition) 20 (9), 484-489, 2024 | | 2024 |
Experience with cascade screening: A comprehensive family pedigree analysis of two index patients with Fabry disease PT Kisa, BO Hismi, M Kocabey, ZA Gulten, B Huddam, S Ekinci, ... American Journal of Medical Genetics Part A, e63552, 2024 | | 2024 |
A Novel PNPLA2 Variant in a Female Patient with Neutral Lipid Storage Disease with Myopathy and Hypogonadotropic Hypogonadism HB Şenol, PT Kısa, B Kulu, H Ören, N Arslan, U Yiş Molecular Syndromology, 1-6, 2024 | | 2024 |