205 results on '"Köse, Engin"'
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2. Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals
3. Is Ultrasonography a Reliable Approach for the Evaluation of Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis?
4. Metabolic etiologies in children with infantile epileptic spasm syndrome: Experience at a tertiary pediatric neurology center
5. Long-term clinical evaluation of patients with alpha-mannosidosis – A multicenter study
6. Characteristics of continuous venovenous hemodiafiltration in the acute treatment of inherited metabolic disorders
7. Early neuroimaging findings of infants diagnosed with inherited metabolic disorders in neonatal period: A case-control study
8. A cause of refractory seizures: Fumarase deficiency
9. Türkiye’s First Multidisciplinary Gene Therapy Education Program: History and Plans for the Future
10. Two Turkish patients with Primary Coenzyme Q10 Deficiency-7: case report and literature review
11. Serum biotin interference: A troublemaker in hormone immunoassays
12. Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GRN gene: case report and review of literature
13. Probable Miglustat-Induced Psychosis in a Child With Niemann-Pick Type C
14. A Case of Late-Presenting Methylmalonic Acidemia from a Country Without Extended Newborn Screening
15. IGAm: A novel index predicting long-term survival in patients with early-diagnosed inherited metabolic disorders
16. A different approach to the evaluation of the genotype-phenotype relationship in biotinidase deficiency: repeated measurement of biotinidase enzyme activity
17. Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GRNgene: case report and review of literature
18. Ketogenic diet-responsive drug-resistant epilepsy in a case of asparagine synthetase deficiency with a novel compound heterozygous missense variant
19. Serum Chitotriosidase Activity in Bronchopulmonary Dysplasia: A Cross-Sectional Study
20. Pros and Cons of Telemedicine for Inherited Metabolic Disorders in a Developing Country During the COVID-19 Pandemic
21. Severe rhabdomyolysis in neuronal ceroid lipofuscinosis type 7
22. Could lysosomal acid lipase enzyme activity be used for clinical follow-up in cryptogenic cirrhosis?
23. Serum Chitotriosidase Activity in Bronchopulmonary Dysplasia: A Cross-Sectional Study.
24. Could lysosomal acid lipase enzyme activity be used for clinical follow-up in cryptogenic cirrhosis?
25. An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment
26. Characteristics of continuous venovenous hemodiafiltration in the acute treatment of inherited metabolic disorders
27. A Patient with Recurrent Severe Hypoglycemic Attacks and Mitochondrial Complex III Deficiency, Nuclear Type 3: a Novel UQCRB Variant
28. The clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a descriptive case series
29. Outcomes of Dyslipidemia Screening Program in School-aged Children
30. Pyruvate carboxylase deficiency type C as a differential diagnosis of diabetic ketoacidosis
31. Status dystonicus associated with CLN8 disease
32. An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment.
33. A Patient with Recurrent Severe Hypoglycemic Attacks and Mitochondrial Complex III Deficiency, Nuclear Type 3: a Novel UQCRB Variant.
34. Yenidoğan Tarama Programı İle Tanı Konulmuş Biotinidaz Eksikliği Olan Hastalarımızın Aile Taramalarının Değerlendirilmesi
35. Functional vitamin B12 deficiency in phenylketonuria patients and healthy controls: An evaluation with combined indicator of vitamin B12 status as a biochemical index
36. Clinical and Molecular Features of Our Pompe Patients: Single-Center Experience
37. Different clinical presentation in a patient with two novel pathogenic variants of the fbxl4 gene
38. Congenital Disorder of Glycosylation: Clinical and Molecular Characteristics of 9 Patients from Turkey
39. Knowledge of Primary Care Physicians on Lysosomal Storage Disorders
40. Knowledge of the primary care physicians on lysosomal storage disorders
41. Lizozomal Depo Hastalıkları: Ne Kadar Farkındayız?
42. Missing verbs in yes/no questions: Gapping or right node raising?
43. The effect of ketogenic diet in patients with metabolic disorders
44. Familial chylomicronemiasyndrome in two cases due to novel mutation in ApoC- II gene
45. Glutaric Aciduria Type IIc: L377P Mutation Should Be Kept in Mind in Turkish Origine
46. A Cause Of Early-OnsetParkinson's Disease: Alkaptonuria
47. Familial chylomicronemia syndrome in two cases due to novel mutation in ApoC- II gene
48. Mukopolisakkaridoz Hastalarında Kan Parametrelerinin ve Ortalama Trombosit Hacminin Değerlendirilmesi
49. Erken Tanı Konulan İki Wolman Hastası Olgusu
50. Genetic Analysis of Phenylketonuria Patients Treated with sapropterin
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