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1. Fabry disease in cardiology: Diagnosis and therapeutic approaches

2. Is the Distribution Pattern of Modic Changes in Vertebral End-plates Associated With the Severity of Intervertebral Disc Degeneration?: A Cross-sectional Analysis of 527 Caucasians

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3. Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement

4. Inflammatory rheumatic diseases in patients with ochronotic arthropathy

5. High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

6. Efficacy of Phenylalanine- and Tyrosine-Restricted Diet in Alkaptonuria Patients on Nitisinone Treatment: Case Series and Review of Literature

7. Serum motilin levels and motilin gene polymorphisms in children with functional constipation

8. Intradiscal vacuum phenomenon and spinal degeneration: a cross-sectional analysis of 219 subjects

9. 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

10. Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey

11. Functional vitamin B12 deficiency in phenylketonuria patients and healthy controls: An evaluation with combined indicator of vitamin B12 status as a biochemical index

12. Vitamin/mineral and micronutrient status in patients with classical phenylketonuria

13. Inborn errors of immunity and metabolic disorders: current understanding, diagnosis, and treatment approaches

14. Efficacy and tolerability of olive oil-based ketogenic diet in children with drug-resistant epilepsy: A single center experience from Turkey

15. Nutritional Habits and Precocious Puberty in Girls: A Pilot Study

16. AB0884 CLINICAL AND DEMOGRAPHIC CHARACTERISTICS OF PATIENTS WITH OCHRONOTIC ARTHROPATHY

17. Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients

18. Is ketogenic diet treatment hepatotoxic for children with intractable epilepsy?

19. The Effect of Ketogenic Diet on Serum Selenium Levels in Patients with Intractable Epilepsy

20. The Effects of Silicone and Acrylic Ear Mold Materials on Outer Ear Canal Resonance Characteristics

21. Using Computerized Cytomorphometry to Distinguish between Benign and Malignant Cases in Thyroid Fine-Needle Aspiration Cytology

22. Review of risk factors in women diagnosed with breast cancer in the light of current data

23. SAT0543 PREVALENCE OF FABRY’S DISEASE IN MILD AND SEVERE FMF PATIENTS

24. The effect of phenylalanine restricted diet on anthropometric parameters in classical phenylketonuria patients

25. Serum Level of Biotin Rather than the Daily Dosage Is the Main Determinant of Interference on Thyroid Function Assays

26. Knowledge of Primary Care Physicians on Lysosomal Storage Disorders

27. Elevated serum neopterin levels in children with functional constipation: association with systemic proinflammatory cytokines

28. Effect of Ketogenic Diet on Motor Functions and Daily Living Activities of Children With Multidrug-Resistant Epilepsy: A Prospective Study

29. Unexpected Diagnosis in an Adolescent With Bruises and Ecchymosis

30. Presentation of central precocious puberty in two patients with Tay-Sachs disease

31. Early Feeding Practices in Infants with Phenylketonuria Across Europe

32. Severe hyperchylomicronemia in two infants with novel APOC2 gene mutation

33. Adipokine Levels and Perilipin Gene Polymorphisms in Obese Turkish Adolescents with Non-Alcoholic Fatty Liver Disease

34. Evaluation of malnutrition development risk in hospitalized children

35. The effect of olive oil-based ketogenic diet on serum lipid levels in epileptic children

36. Mean Platelet Volume in Children with Acute Gastroenteritis Caused by Entamoeba histolytica

37. Comparison of atherogenic risk factors among poorly controlled and well-controlled adolescent phenylketonuria patients

38. Presenting with Isolated Hepatitis Caused by Congenital Rubella Infection Due to Maternal Rubella Vaccination

39. First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency)

40. The Effects of Breastfeeding in Infants With Phenylketonuria

41. What are the important risk factors for the obesity in the children three to six years of age: A cross-sectional study

42. Analysis of hematological parameters in patients treated with ketogenic diet due to drug-resistant epilepsy

43. Presenting symptoms of pediatric patients with celiac disease

44. Role of fecal calprotectin in the assessment of intestinal inflammation in children with familial Mediterranean fever

45. Selective Screening for Inborn Errors of Metabolism: A Report of Six Years Experience

46. Identification of three novel mutations in fourteen patients with citrullinemia type 1

47. Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis

48. Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two

49. A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia

50. Farber disease (acid ceramidase deficiency): Data from an ongoing natural history study