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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
A Novel Double Homozygous BTD Gene Mutation in a Case of Profound Biotinidase Deficiency.
- Published in:
- Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2023, v. 17, n. 3, p. 250, doi. 10.12956/tchd.1082479
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- Publication type:
- Article
Coexistence of Two Rare Conditions Complicating the Other's Management: Propionic Acidemia and Apert Syndrome.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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
COVID-19 pandemisinin hiperfenilalaninemi taraması başvurularına etkileri.
- Published in:
- Cocuk Sagligi ve Hastaliklari Dergisi, 2022, v. 65, n. 1, p. 8
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- Publication type:
- Article
Biotinidaz eksikliği taraması: COVID-19 pandemisinin tek merkeze hasta başvurularına etkisi.
- Published in:
- Cocuk Sagligi ve Hastaliklari Dergisi, 2021, v. 64, n. 3/4, p. 61
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- Publication type:
- Article
Morphological analysis of the hypoglossal canal and its relationship with surrounding anatomical structures.
- Published in:
- Journal of Medical & Dental Investigations, 2023, v. 4, p. 1, doi. 10.5577/jomdi.e230343
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- Publication type:
- Article
Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department.
- Published in:
- 2020
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- Publication type:
- journal article
Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management.
- Published in:
- 2019
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- Publication type:
- journal article
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25515-5
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- Publication type:
- Article
Adjustment to Target Capital Structure and Global Financial Crisis: Evidence from Turkey.
- Published in:
- Business & Economics Research Journal, 2018, v. 9, n. 3, p. 543, doi. 10.20409/berj.2018.122
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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
TÜRKİYE’DE 1985-2015 TARİHLERİ ARASINDA YAPILMIŞ MÜZE KONULU LİSANSÜSTÜ TEZLERİN İNCELENMESİ.
- Published in:
- Electronic Turkish Studies, 2017, v. 12, n. 4, p. 603, doi. 10.7827/TurkishStudies.10052
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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
Associations of single nucleotide polymorphisms with mucinous colorectal cancer: genome-wide common variant and gene-based rare variant analyses.
- Published in:
- Biomarker Research, 2018, v. 6, n. 1, p. N.PAG, doi. 10.1186/s40364-018-0133-z
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- Publication type:
- 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
Addressing age measurement errors in fish growth estimation from length-stratified samples.
- Published in:
- Biometrics, 2024, v. 80, n. 2, p. 1, doi. 10.1093/biomtc/ujae029
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- Publication type:
- 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
The effect of COVID-19 pandemic on university education: Adoption of e-learning and testing the technology acceptance model.
- Published in:
- 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
Climate change exposure, environmental performance, and the cost of capital in the energy sector: Fossil fuel versus renewable energy firms.
- Published in:
- Managerial & Decision Economics, 2024, v. 45, n. 7, p. 4628, doi. 10.1002/mde.4260
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- Publication type:
- Article
WHAT HAPPENED TO THE WILLINGNESS OF COMPANIES TO INVEST AFTER THE FINANCIAL CRISIS? EVIDENCE FROM LATIN AMERICAN COUNTRIES.
- Published in:
- Journal of Financial Research, 2020, v. 43, n. 2, p. 231, doi. 10.1111/jfir.12206
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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
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.
- Published in:
- 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
Oral health status of children with phenylketonuria.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 3, p. 361, doi. 10.1515/jpem-2019-0439
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- Publication type:
- Article
A comprehensive analysis of SNPs and CNVs identifies novel markers associated with disease outcomes in colorectal cancer.
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- Molecular Oncology, 2021, v. 15, n. 12, p. 3329, doi. 10.1002/1878-0261.13067
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- Publication type:
- Article
Likelihood ratio procedures and tests of fit in parametric and semiparametric copula models with censored data.
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- Lifetime Data Analysis, 2011, v. 17, n. 3, p. 386, doi. 10.1007/s10985-011-9192-2
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- Publication type:
- Article
Elevated expression of podocalyxin is associated with lymphatic invasion, basal-like phenotype, and clinical outcome in axillary lymph node-negative breast cancer.
- Published in:
- Breast Cancer Research & Treatment, 2013, v. 137, n. 3, p. 709, doi. 10.1007/s10549-012-2392-y
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- Publication type:
- Article
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
Türkiye'de Köy Enstitülerine Yönelik Çalışmaların Sistematik İncelemesi.
- Published in:
- Journal of Ahmet Kelesoglu Educational Faculty, 2023, v. 5, p. 941
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- Publication type:
- Article
Germline INDELs and CNVs in a cohort of colorectal cancer patients: their characteristics, associations with relapse-free survival time, and potential time-varying effects on the risk of relapse.
- Published in:
- Cancer Medicine, 2017, v. 6, n. 6, p. 1220, doi. 10.1002/cam4.1074
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- Publication type:
- Article
Environmental policies, national culture, and stock price crash risk: Evidence from renewable energy firms.
- Published in:
- Business Strategy & the Environment (John Wiley & Sons, Inc), 2020, v. 29, n. 6, p. 2374, doi. 10.1002/bse.2508
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- Publication type:
- Article
Renal vascular and ureteral variations in patients with kidney transplantation.
- Published in:
- 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
Aracı Kurum Tavsiyelerinin Hisse Senedi Fiyatı Üzerindeki Etkisi: Türkiye Örneği.
- Published in:
- Journal of Accounting & Finance / Muhasebe ve Finansman Dergisi, 2017, n. 74, p. 97
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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.
- Published in:
- Metabolic Brain Disease, 2021, v. 36, n. 6, p. 1405, doi. 10.1007/s11011-021-00753-0
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- Publication type:
- Article
Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.
- Published in:
- Metabolic Brain Disease, 2021, v. 36, n. 6, p. 1213, doi. 10.1007/s11011-021-00718-3
- By:
- Publication type:
- Article
The Türkiye-Syria Earthquake: a response from the editors of the Turkish Journal of Pediatrics.
- Published in:
- Turkish Journal of Pediatrics, 2023, v. 65, n. 1, p. 1, doi. 10.24953/turkjped.2023.E001
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- Publication type:
- Article
The Turkish Journal of Pediatrics: a year of transition for the Journal.
- Published in:
- Turkish Journal of Pediatrics, 2023, v. 65, n. 2, p. vi
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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
- By:
- Publication type:
- Article
Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay.
- Published in:
- 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.
- Published in:
- Turkish Journal of Pediatrics, 2018, v. 60, n. 6, p. 617, doi. 10.24953/turkjped.2018.06.001
- By:
- Publication type:
- Article
Oral health status in patients with mucopolysaccharidoses.
- Published in:
- Turkish Journal of Pediatrics, 2018, v. 60, n. 4, p. 400, doi. 10.24953/turkjped.2018.04.007
- By:
- Publication type:
- Article
Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder.
- Published in:
- Turkish Journal of Pediatrics, 2016, v. 58, n. 1, p. 94
- By:
- 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
- By:
- Publication type:
- Article
The long-term survival characteristics of a cohort of colorectal cancer patients and baseline variables associated with survival outcomes with or without time-varying effects.
- Published in:
- 2019
- By:
- Publication type:
- journal article
A Child with Developmental Regression and Electroencephalographic Abnormalities.
- Published in:
- Clinical Chemistry, 2022, v. 68, n. 6, p. 858, doi. 10.1093/clinchem/hvab284
- By:
- Publication type:
- Article