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Pelin Teke KISA
Pelin Teke KISA
Verified email at deu.edu.tr
Title
Cited by
Cited by
Year
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
142021
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
142021
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
112019
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
92022
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
82018
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
82017
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
72022
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
72021
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
72020
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
62021
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
62020
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
32023
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
32021
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
22024
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
22021
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
22017
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
12021
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
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