178 results on '"Akman, H."'
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2. Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource
3. USP13 controls the stability of Aurora B impacting progression through the cell cycle
4. A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome
5. Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1
6. Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency
7. O18: A path forward for patients with glycogen branching enzyme deficiency: Consensus on diagnosing and managing glycogen storage disease type IV*
8. ALCAM is indirectly modulated by miR-125b in MCF7 cells
9. A novel mouse model that recapitulates adult-onset glycogenosis type 4
10. Deep Intronic GBE1 Mutation in Manifesting Heterozygous Patients With Adult Polyglucosan Body Disease
11. Revisiting degron motifs in human AURKA required for its targeting by APC/CFZR1.
12. Earthquake risk assessment for Istanbul metropolitan area
13. Glycogen metabolism pathway defects produce gastrointestinal myopathy with polyglucosan bodies: an explanation for the neuropathology and symptoms of gastrointestinal neuromuscular disorder: O33
14. Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV
15. An investigation of the factors that affect surgical hand disinfection with polyvidone iodine
16. Bayes estimation in a mixture inverse Gaussian model
17. Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis
18. A comparative study of continuous positive airway pressure (CPAP) and intermittent positive pressure ventilation (IPPV) in patients with flail chest
19. Can Computed Tomography Scout Radiography Replace Plain Film in the Evaluation of Patients with Acute Urinary Tract Colic?
20. Spontaneous Rupture of Mediastinal Cystic Teratoma with High Levels of Amylase, Lipase, CA 19-9, CA 125 and CEA in Cystic Fluid: a Case Report
21. A comparative study on the analgesic effect of tramadol, tramadol plus magnesium, and tramadol plus ketamine for postoperative pain management after major abdominal surgery
22. Acute Ureterolithiasis: Incidence of Secondary Signs on Unenhanced Helical CT and Influence on Patient Management
23. GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease.
24. Clinical evaluation of bulk-fill resins and glass ionomer restorative materials: A 1-year follow-up randomized clinical trial in children.
25. BRIQUETTING OF ROSE OIL (ROSA DAMASCENA MILL.) PROCESSING WASTES WITH LIGNITE COAL DUST.
26. MFN2 mutations in Charcot–Marie–Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.
27. A new muscle glycogen storage disease associated with glycogenin-1 deficiency
28. Optimum Solid Loading Rate for Biogas Production from Agricultural Wastes
29. Macrocytic Anemia and Mitochondriopathy Resulting from a Defect in Sideroflexin 4
30. Estrogen-induced upregulation and 3'-UTR shortening of CDC6
31. Chapter 9 - Animal Models of Glycogen Storage Disorders
32. Structural analysis of a 50 KB region on 17q23
33. Prenatal diagnosis of glycogen storage disease type IV
34. Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis
35. The effects of ventilation parameters, airway mechanics and hemodynamic variables on intraocular pressure in ALI/ARDS patients
36. Do non-invasive mechanical ventilation and PCA have a role in therapy of patients with flail chest?
37. A comparative study on the analgesic effect of tramadol, tramadol plus magnesium, and tramadol plus ketamine for postoperative pain management after major abdominal surgery
38. Placebo-controlled multicentre randomised trial of interferon beta-1b in treatment of secondary progressive multiple sclerosis
39. Effects of meperidine and meperidine-calcitonin administration on spinal anaesthesia
40. A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children.
41. A novel mouse model that recapitulates adult-onset glycogenosis type 4.
42. Effects of mixture ratio of cow manure and greenhouse wastes on anaerobic co-digestion process.
43. Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene.
44. A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes Syndrome.
45. Muscle phosphorylase kinase defiency.
46. The intercultural challenges of general practitioners in Norway with migrant patients.
47. Selective activation, expansion, and monitoring of human iNKT cells with a monoclonal antibody specific for the TCR α-chain CDR3 loop.
48. OP-317 TEMPORARY CATHETER APPLICATIONS
49. A double-blind comparison of intrathecal S(+) ketamine and fentanyl combined with bupivacaine 0.5% for Caesarean delivery.
50. Prenatal diagnosis of glycogen storage disease type IV.
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