154 results on '"Eminoğlu, Fatma Tuba"'
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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. Diagnosis and Treatment of Newborns Referred to the Metabolism Department From the National Newborn Screening Program in Türkiye: A 5-Year Single-Center Experience
9. A cause of refractory seizures: Fumarase deficiency
10. Türkiye’s First Multidisciplinary Gene Therapy Education Program: History and Plans for the Future
11. Two Turkish patients with Primary Coenzyme Q10 Deficiency-7: case report and literature review
12. Serum biotin interference: A troublemaker in hormone immunoassays
13. Coexistence of spinocerebellar ataxia autosomal recessive type 21 and Ehlers-Danlos syndrome spondylodysplastic type 3 in a patient
14. Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GRN gene: case report and review of literature
15. International classification of functioning, disability and health framework (ICF) based adaptive functioning outcomes of children with organic acidemias from a middle-income country
16. Probable Miglustat-Induced Psychosis in a Child With Niemann-Pick Type C
17. A Case of Late-Presenting Methylmalonic Acidemia from a Country Without Extended Newborn Screening
18. IGAm: A novel index predicting long-term survival in patients with early-diagnosed inherited metabolic disorders
19. A different approach to the evaluation of the genotype-phenotype relationship in biotinidase deficiency: repeated measurement of biotinidase enzyme activity
20. Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GRNgene: case report and review of literature
21. Genetic variants of GBA and GLA in a Turkish cohort of Parkinson's disease: A preliminary report
22. Kalıtsal Metabolik Hastalıkların Tedavisinde Sekonder Uygulama Alanı Olarak Ketojenik Diyet Tedavisi: Nonketotik Hiperglisinemili Bir Olgu Sunumu
23. Serum Chitotriosidase Activity in Bronchopulmonary Dysplasia: A Cross-Sectional Study
24. Coexistence of spinocerebellar ataxia autosomal recessive type 21 and Ehlers-Danlos syndrome spondylodysplastic type 3 in a patient
25. Pros and Cons of Telemedicine for Inherited Metabolic Disorders in a Developing Country During the COVID-19 Pandemic
26. Erken Çocukluk Döneminde Kalıtsal Metabolik Hastalığı Olan Çocukların COVİD-19 Pandemisinde Gelişimsel Risk Etmenleri
27. Severe rhabdomyolysis in neuronal ceroid lipofuscinosis type 7
28. A Patient with a Novel RARS2 Variant Exhibiting Liver Involvement as a New Clinical Feature and Review of the Literature
29. Serum Chitotriosidase Activity in Bronchopulmonary Dysplasia: A Cross-Sectional Study.
30. TMEM70 deficiency: long-term outcome of 48 patients
31. A Patient with Recurrent Severe Hypoglycemic Attacks and Mitochondrial Complex III Deficiency, Nuclear Type 3: a Novel UQCRB Variant
32. An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment
33. Characteristics of continuous venovenous hemodiafiltration in the acute treatment of inherited metabolic disorders
34. ALG1-CDG: A Patient with a Mild Phenotype and Literature Review
35. A Patient with Recurrent Severe Hypoglycemic Attacks and Mitochondrial Complex III Deficiency, Nuclear Type 3: a Novel UQCRB Variant
36. The clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a descriptive case series
37. Unmet Needs of Children with Inherited Metabolic Disorders in the COVID-19 Pandemic.
38. Pyruvate carboxylase deficiency type C as a differential diagnosis of diabetic ketoacidosis
39. Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family
40. Whole Mitochondrial Genome Analysis in Turkish Patients with Mitochondrial Diseases.
41. An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment.
42. A Patient with Recurrent Severe Hypoglycemic Attacks and Mitochondrial Complex III Deficiency, Nuclear Type 3: a Novel UQCRB Variant.
43. ALG1-CDG: A Patient with a Mild Phenotype and Literature Review.
44. Erratum to: TMEM70 deficiency: long-term outcome of 48 patients
45. A Novel Rars2 Mutation in Two Siblings with Microcephaly, Seizures and Liver Involvement
46. RAR2mutation in two siblingswith microcephaly,seizures and liver involvement
47. Erratum to ‘Response to early coenzyme Q10 supplementation is not sustained in CoQ10 deficiency caused by CoQ2 mutation’ [Pediatric Neurology 88 (2018) 71–74]
48. Continuous venovenous hemodiafiltration in the treatment of newborns with an inborn metabolic disease: a single center experience
49. Response to Early Coenzyme Q10 Supplementation Is not Sustained in CoQ10 Deficiency Caused by CoQ2 Mutation
50. Continous venovenous haemodiafiltration in the management of neonates with inborn errors of metabolism: single center experience
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