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Bir üniversite hastanesinde 5 yıllık intraoperatif patoloji konsültasyonlarının değerlendirilmesi.
- Published in:
- Dicle Medical Journal / Dicle Tip Dergisi, 2013, v. 40, n. 2, p. 207, doi. 10.5798/diclemedj.0921.2013.02.0255
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- Publication type:
- Article
Morphological analysis of the hypoglossal canal and its relationship with surrounding anatomical structures.
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- Journal of Medical & Dental Investigations, 2023, v. 4, p. 1, doi. 10.5577/jomdi.e230343
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- Publication type:
- Article
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
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- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25515-5
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- Article
Heavy Metal and Trace Element Status and Dietary Determinants in Children with Phenylketonuria.
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- Nutrients, 2024, v. 16, n. 20, p. 3463, doi. 10.3390/nu16203463
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- Publication type:
- Article
Evaluation of Exposure to Bisphenol A, Bisphenol F, and Phthalates in Patients with Phenylketonuria and Its Differences According to Dietary Status.
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- Nutrients, 2024, v. 16, n. 18, p. 3213, doi. 10.3390/nu16183213
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- Publication type:
- Article
Correction to: DNAJC12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.
- Published in:
- 2021
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- Publication type:
- Correction Notice
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.
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- Metabolic Brain Disease, 2021, v. 36, n. 6, p. 1405, doi. 10.1007/s11011-021-00753-0
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- Article
Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.
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- Metabolic Brain Disease, 2021, v. 36, n. 6, p. 1213, doi. 10.1007/s11011-021-00718-3
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- Publication type:
- Article
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
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- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 447, doi. 10.1002/jimd.12723
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- Publication type:
- Article
Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
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- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 431, doi. 10.1002/jimd.12658
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- Publication type:
- Article
Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
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- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 220, doi. 10.1002/jimd.12717
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- Publication type:
- Article
Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1489, doi. 10.1002/jimd.12416
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- Publication type:
- Article
The COVID-19 Pandemic and Enzyme Replacement Therapy in Lysosomal Storage Disorders.
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- Journal of Pediatric Research, 2021, v. 8, n. 4, p. 370, doi. 10.4274/jpr.galenos.2020.98250
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- Publication type:
- Article
The effect of COVID-19 pandemic on university education: Adoption of e-learning and testing the technology acceptance model.
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- KEDI Journal of Educational Policy, 2022, v. 19, n. 2, p. 3, doi. 10.22804/kjep.2022.19.2.001
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- Publication type:
- Article
Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients.
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- Balkan Medical Journal, 2022, v. 39, n. 5, p. 345, doi. 10.4274/balkanmedj.galenos.2022.2022-3-75
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- Publication type:
- Article
Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis‐plus syndrome in two siblings.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 3, p. 308, doi. 10.1111/cge.14002
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- Publication type:
- Article
Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 705, doi. 10.1002/ajmg.a.61488
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- Publication type:
- Article
A Child with Developmental Regression and Electroencephalographic Abnormalities.
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- Clinical Chemistry, 2022, v. 68, n. 6, p. 858, doi. 10.1093/clinchem/hvab284
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- Publication type:
- Article
Perplexing Etiology of Hyperphenylalaninemia in an Infant Referred via Newborn Screening.
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- Clinical Chemistry, 2021, v. 67, n. 10, p. 1428, doi. 10.1093/clinchem/hvab106
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- Publication type:
- Article
Coexistence of Two Rare Conditions Complicating the Other's Management: Propionic Acidemia and Apert Syndrome.
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- Molecular Syndromology, 2024, v. 15, n. 1, p. 83, doi. 10.1159/000534380
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- Publication type:
- Article
Novel Cranial Imaging Findings and a Splice-Site Variant in a Patient with Tyrosinemia Type III, and a Summary of Published Cases.
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- Molecular Syndromology, 2022, v. 13, n. 3, p. 193, doi. 10.1159/000519256
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- Publication type:
- Article
Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency.
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- Journal of Clinical Research in Pediatric Endocrinology, 2022, v. 14, n. 3, p. 275, doi. 10.4274/jcrpe.galenos.2022.2021-10-14
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- Publication type:
- Article
A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome.
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- Journal of Clinical Research in Pediatric Endocrinology, 2021, v. 13, n. 4, p. 452, doi. 10.4274/jcrpe.galenos.2020.2020.0065
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- Publication type:
- Article
EFFECT OF WATER FLOW RATE ON COOLING EFFECTIVENESS AND AIR TEMPERATURE CHANGE IN EVAPORATIVE COOLING PAD SYSTEMS.
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- Environmental Engineering & Management Journal (EEMJ), 2016, v. 15, n. 4, p. 827, doi. 10.30638/eemj.2016.089
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- Article
Increased ocular wall thickness and decreased globe volume in children with mucopolysaccharidosis type VI.
- Published in:
- 2022
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- Publication type:
- journal article
Başarılı Zekâ Kuramının Kuramsal Yapısı ve Eğitime Yansıması.
- Published in:
- Karamanoglu Mehmetbey University Journal of Social & Economic Research / Karamanoğlu Mehmetbey Üniversitesi Sosyal ve Ekonomi̇k Araştırmalar Dergi̇si, 2016, v. 18, n. 31, p. 98
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- Publication type:
- Article
Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department.
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- 2020
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- Publication type:
- journal article
Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management.
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- 2019
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- Publication type:
- journal article
Renal vascular and ureteral variations in patients with kidney transplantation.
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- Anatomy: International Journal of Experimental & Clinical Anatomy, 2023, v. 17, n. 1, p. 5, doi. 10.2399/ana.23.1348742
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- Publication type:
- Article
Rare cause of high anion gap metabolic acidosis in an infant: Succinyl-CoA:3-ketoacid transferase deficiency.
- Published in:
- 2019
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- Publication type:
- Case Study
The Turkish Journal of Pediatrics: a year of transition for the Journal.
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- Turkish Journal of Pediatrics, 2023, v. 65, n. 2, p. vi
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- Publication type:
- Article
Biotinidaz eksikliği taraması: COVID-19 pandemisinin tek merkeze hasta başvurularına etkisi.
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- Cocuk Sagligi ve Hastaliklari Dergisi, 2021, v. 64, n. 3/4, p. 61
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- Publication type:
- Article
COVID-19 pandemisinin hiperfenilalaninemi taraması başvurularına etkileri.
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- Cocuk Sagligi ve Hastaliklari Dergisi, 2022, v. 65, n. 1, p. 8
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- Publication type:
- Article
Comment on: "Multiple acyl‑CoA dehydrogenase deficiency in elderly carriers".
- Published in:
- 2020
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- Publication type:
- Letter
Difficulties Associated with Enzyme Replacement Therapy for Mucopolysaccharidoses.
- Published in:
- Turkish Archives of Pediatrics, 2021, v. 56, n. 6, p. 602, doi. 10.5152/TurkArchPediatr.2021.21235
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- Publication type:
- Article
A Systematic Overview of Adolescents' Smartphone Habits and Internet Addiction During the COVID-19 Era.
- Published in:
- Current Approaches in Psychiatry / Psikiyatride Guncel Yaklasimlar, 2022, v. 14, n. 4, p. 510, doi. 10.18863/pgy.1064501
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- Publication type:
- Article
Dihydropyrimidinase deficiency with atrioventricular septal defect: a case report.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 8, p. 741, doi. 10.1515/jpem-2023-0518
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- Publication type:
- Article
Invisible burden of COVID-19: enzyme replacement therapy disruptions.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 5, p. 539, doi. 10.1515/jpem-2021-0067
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- Publication type:
- Article
Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations.
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- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 6, p. 721, doi. 10.1515/jpem-2019-0413
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- Publication type:
- Article
Inborn errors of metabolism in the differential diagnosis of fatty liver disease.
- Published in:
- Turkish Journal of Gastroenterology, 2020, v. 31, n. 1, p. 3, doi. 10.5152/tjg.2019.19367
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- Publication type:
- Article
ÇOCUK ACİL POLİKLİNİĞİNE BAŞVURAN ORGANİK ASİDEMİ HASTALARININ ÖZELLİKLERİ İLE AKUT METABOLİK KRİZ TANISI İLE İLİŞKİLİ KLİNİK VE LABORATUVAR PARAMETRELERİNİN DEĞERLENDİRİLMESİ
- Published in:
- Journal of Pediatric Emergency & Intensive Care Medicine / Çocuk Acil ve Voğun Bakım Dergisi, 2018, v. 5, p. 227
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- Publication type:
- Article
The Türkiye-Syria Earthquake: a response from the editors of the Turkish Journal of Pediatrics.
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- Turkish Journal of Pediatrics, 2023, v. 65, n. 1, p. 1, doi. 10.24953/turkjped.2023.E001
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- Publication type:
- Article
COVID-19-related anxiety in phenylketonuria patients.
- Published in:
- Turkish Journal of Pediatrics, 2021, v. 63, n. 5, p. 790, doi. 10.24953/turkjped.2021.05.007
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- Publication type:
- Article
Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay.
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- Turkish Journal of Pediatrics, 2020, v. 62, n. 3, p. 474, doi. 10.24953/turkjped.2020.03.015
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- Publication type:
- Article
Cognitive and behavioral impairment in mild hyperphenylalaninemia.
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- Turkish Journal of Pediatrics, 2018, v. 60, n. 6, p. 617, doi. 10.24953/turkjped.2018.06.001
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- Publication type:
- Article
Oral health status in patients with mucopolysaccharidoses.
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- Turkish Journal of Pediatrics, 2018, v. 60, n. 4, p. 400, doi. 10.24953/turkjped.2018.04.007
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- Publication type:
- Article
Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder.
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- Turkish Journal of Pediatrics, 2016, v. 58, n. 1, p. 94
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- Publication type:
- Article
Localized acute generalized exanthematous pustulosis with amoxicillin and clavulanic acid.
- Published in:
- Turkish Journal of Pediatrics, 2011, v. 53, n. 2, p. 229
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- Publication type:
- Article