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