Cerebral infarction and femoral venous thrombosis detected in a patient with diabetic ketoacidosis and heterozygous factor V Leiden G1691A and PAI-1 4G/5G … S Yaroglu Kazanci, O Yesilbas, M Ersoy, HS Kihtir, HM Yildirim, ... Journal of Pediatric Endocrinology and Metabolism 28 (9-10), 1183-1186, 2015 | 16 | 2015 |
Determinants of plasma docosahexaenoic acid levels and their relationship to neurological and cognitive functions in PKU patients: A double blind randomized supplementation study H Demmelmair, A MacDonald, U Kotzaeridou, P Burgard, ... Nutrients 10 (12), 1944, 2018 | 14 | 2018 |
Ethylmalonic encephalopathy: Clinical course and therapy response in an uncommon mild case with a severe ETHE1 mutation M Ersoy, V Tiranti, M Zeviani Molecular Genetics and Metabolism Reports 25, 100641, 2020 | 13 | 2020 |
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants GF Vogel, Y Mozer-Glassberg, YE Landau, LD Schlieben, H Prokisch, ... Genetics in Medicine 25 (6), 100314, 2023 | 11 | 2023 |
The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum M Kose, E Isik, A Aykut, A Durmaz, E Kose, M Ersoy, G Diniz, O Adebali, ... Journal of Pediatric Endocrinology and Metabolism 34 (4), 417-430, 2021 | 10 | 2021 |
Acute severe organophosphate poisoning in a child who was successfully treated with therapeutic plasma exchange, high‐volume hemodiafiltration, and lipid infusion O Yesilbas, HS Kihtir, M Altiti, MT Petmezci, S Balkaya, B Bursal Duramaz, ... Journal of Clinical Apheresis 31 (5), 467-469, 2016 | 10 | 2016 |
A novel frameshift mutation of malonyl‐CoA decarboxylase deficiency: clinical signs and therapy response of a late‐diagnosed case M Ersoy, MB Akyol, S Ceylaner, NÇ Biçer Clinical Case Reports 5 (8), 1284, 2017 | 9 | 2017 |
Early postnatal metabolic profile in neonates with different birth weight status: a pilot study S Beken, S Abali, N Yildirim Saral, B Guner, T Dinc, E Albayrak, M Ersoy, ... Frontiers in Pediatrics 9, 646860, 2021 | 8 | 2021 |
Three-country snapshot of ornithine Transcarbamylase deficiency B Seker Yilmaz, J Baruteau, N Arslan, HI Aydin, M Barth, AE Bozaci, ... Life 12 (11), 1721, 2022 | 7 | 2022 |
Hemolytic uremic syndrome with dual caution in an infant: cobalamin C defect and complement dysregulation successfully treated with eculizumab UK Barlas, HS Kıhtır, N Goknar, M Ersoy, N Akcay, E Sevketoglu Pediatric Nephrology 33, 1093-1096, 2018 | 7 | 2018 |
A novel mutation of the PEX16 gene in a patient with slowly progressive Zellweger syndrome M Ersoy, B Tatlı, S Ceylaner J Clin Case Rep 6 (854), 2, 2016 | 4 | 2016 |
Prevalence of congenital sucrase-isomaltase deficiency in Turkey may be much higher than the estimates DG Taskin, HA Civan, EE SarI, C Altuntaş, M Ersoy, T Tuncel, H Onay, ... Journal of Genetics 102 (1), 31, 2023 | 2 | 2023 |
Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population M Ersoy, B Uyanik, A Gedikbasi Genes 12 (12), 1987, 2021 | 2 | 2021 |
Ağır serebral disgenezi ve hipotoni ile karakterize peroksizomal hastalık O Yeşilbaş, HS Kıhtır, M Ersoy, HM Yıldırım, MÜ Sungur, E Şevketoğlu Dicle Tıp Dergisi 42 (4), 535-537, 2015 | 2 | 2015 |
Evaluation of endocrinological involvement and metabolic status in patients with Gaucher disease Type 1 and Fabry disease under enzyme replacement therapy M Ersoy, H Pişkinpaşa Journal of Pediatric Endocrinology and Metabolism 35 (4), 519-527, 2022 | 1 | 2022 |
Cobalamin E disease with a novel homozygous MTRR mutation as a cobalamin-related remethylation disorder: a treatable etiology in West syndrome T Aksu Uzunhan, B Uyanık, M Ersoy, Y Türkmenoğlu Acta Neurologica Belgica 122 (1), 255-256, 2022 | 1 | 2022 |
Evaluation of babies with hyperphenylalaninemia diagnosed in the National Newborn Screening Program in Istanbul in 2019. P Savli, M Ersoy, AE Guner, I Tas International Journal of Medical Biochemistry 5 (1), 2022 | 1 | 2022 |
Inherited Metabolic Myopathies: Current Diagnosis and Treatment Approaches. M Ersoy Medical Journal of Bakirkoy 17 (2), 2021 | 1 | 2021 |
Evaluation of Metabolic and Nutritional Status of Children with Autism Spectrum Disorders: Results of a Single Center in Turkey. M Ersoy, M Murat, S Yilmaz Medical Journal of Bakirkoy 16 (3), 2020 | 1 | 2020 |
A rare structural myopathy: Nemaline myopathy O Yeşilbaş, E Şevketoğlu, HS Kıhtır, M Ersoy, MT Petmezci, CH Akkuş, ... Turkish Archives of Pediatrics/Türk Pediatri Arşivi 54 (1), 49, 2019 | 1 | 2019 |