| 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 | 18 | 2021 |
| Clinical and immunological characteristics of 63 patients with chronic granulomatous disease: Hacettepe experience HT Akar, S Esenboga, D Cagdas, SO Halacli, B Ozbek, K Van Leeuwen, ... Journal of Clinical Immunology 41, 992-1003, 2021 | 9 | 2021 |
| Autism spectrum disorder in patients with inherited metabolic disorders-a large sample from a tertiary center TÇ Yoldaş, BB Gürbüz, HT Akar, EN Özmert, T Coşkun The Turkish Journal of Pediatrics 63 (5), 767-779, 2021 | 8 | 2021 |
| 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 | 5 | 2021 |
| Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury HT Akar, Y Yıldız, R Mutluay, E Tekin, A Tokatlı CEN case reports 13 (2), 81-85, 2024 | 4 | 2024 |
| A novel interleukin 17 receptor A mutation in a child with chronic mucocutaneous candidiasis and staphylococcal skin infections N Yakıcı, SO Halaçlı, Ç Tan, PG Çetinkaya, HT Akar, B Çavdarlı, B Özbek, ... Turkish Archives of Pediatrics 58 (4), 442, 2023 | 4 | 2023 |
| Challenging diagnosis and rare disease in children: Dermatitis artefacta E Isiyel, S Ersoy Evans, HT Akar, A Gurbanov, A Karaduman, ... J Paediatr Child Health 57, 1710-1712, 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 | 4 | 2021 |
| 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 | 3 | 2023 |
| A transposase-derived gene required for human brain development LJ Zapater, E Rodriguez-Fos, M Planas-Felix, S Lewis, D Cameron, ... bioRxiv, 2023 | 3 | 2023 |
| TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions H Almousa, SA Lewis, S Bakhtiari, SH Nordlie, A Pagnozzi, H Magee, ... Brain 147 (1), 311-324, 2024 | 2 | 2024 |
| 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 |
| Perplexing etiology of hyperphenylalaninemia in an infant referred via newborn screening K Çıkı, HT Akar, RK Özgül, B Gülbakan, Y Yıldız Clinical chemistry 67 (10), 1428-1431, 2021 | 2 | 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 | 1 | 2024 |
| 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 |
| A Novel Double Homozygous BTD Gene Mutation in A Case of Profound Biotinidase Deficiency K Deveci, HT Akar, Y YILDIZ, RK Özgül Türkiye Çocuk Hastalıkları Dergisi, 1-3, 2022 | 1 | 2022 |
| Biotinidaz eksikliği taraması: COVID-19 pandemisinin tek merkeze hasta başvurularına etkisi. İ Erdal, HT Akar, Y Yıldız, A Dursun, HS Sivri, T Coşkun, A Tokatlı Cocuk Sagligi ve Hastaliklari Dergisi 64, 2021 | 1 | 2021 |
| Complicated peripartum course in a patient with very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency HT Akar, M Çağan, Y Yıldız, HS Sivri Neuromuscular Disorders 31 (6), 566-569, 2021 | 1 | 2021 |
| Leigh Syndrome due to MT-ATP6 Variants: A Case Presentation and the Review of the Literature HT Akar, E Sayar, Ö Sarıtaş Nakip, E Sönmez, MB Özkan, A Olgaç Molecular Syndromology 15 (4), 333-338, 2024 | | 2024 |
| Case presentation: a severe case of cobalamin c deficiency presenting with nephrotic syndrome, malignant hypertension and hemolytic anemia HT Akar, H Yıldız, Z Öztürk, D Karakaya, A Sezer, A Olgaç BMC nephrology 25 (1), 217, 2024 | | 2024 |
