178 results on '"Maiorana, Arianna"'
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2. Drug-induced hyperinsulinemic hypoglycemia: An update on pathophysiology and treatment
3. Pancreatic beta-cell specific BAG3 knockout results in chronic hyperinsulinemia inducing insulin resistance
4. A narrative review on pathogenetic mechanisms of hyperinsulinemic hypoglycemia in Kabuki syndrome
5. Congenital Hyperinsulinism
6. Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI
7. A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis – case report
8. Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort
9. Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations
10. Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism
11. Drug-Induced Hypoglycemia in Neonates Born to Nondiabetic Women Treated with Medications during the Pregnancy or the Labor: A Systematic Review of the Literature
12. Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study
13. NTBC and Correction of Renal Dysfunction
14. Safety of vaccines administration in hereditary fructose intolerance
15. Current understanding on pathogenesis and effective treatment of glycogen storage disease type Ib with empagliflozin: new insights coming from diabetes for its potential implications in other metabolic disorders
16. Understanding the Pathogenesis of Cardiac Complications in Patients with Propionic Acidemia and Exploring Therapeutic Alternatives for Those Who Are Not Eligible or Are Waiting for Liver Transplantation
17. Case report: Pylorus-preserving pancreatoduodenectomy for focal congenital hyperinsulinism in a 5-month-old baby
18. Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties
19. Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire
20. TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability
21. Hypoglycaemia Metabolic Gene Panel Testing
22. Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation
23. Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening
24. Additional file 1 of Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations
25. Additional file 2 of Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations
26. Role of pescadillo in the transformation and immortalization of mammalian cells
27. The Ketogenic Diet Increases In Vivo Glutathione Levels in Patients with Epilepsy
28. Preemptive liver transplantation in a child with familial hypercholesterolemia
29. Congenital Hyperinsulinism and Glucose Hypersensitivity in Homozygous and Heterozygous Carriers of Kir6.2 (KCNJ11) Mutation V290M Mutation: KATP Channel Inactivation Mechanism and Clinical Management
30. Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia
31. Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations
32. Late Effects of Disturbed IGF Signaling in Congenital Diseases
33. Adiponectin Levels Are Reduced in Children Born Small for Gestational Age and Are Inversely Related to Postnatal Catch-Up Growth
34. Blood Glucose Concentrations are Reduced in Children Born Small for Gestational Age (SGA), and Thyroid-Stimulating Hormone Levels are Increased in SGA with Blunted Postnatal Catch-up Growth
35. Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation
36. Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage
37. Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
38. Focal congenital hyperinsulinism managed by medical treatment: A diagnostic algorithm based on molecular genetic screening
39. Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2
40. Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
41. Acute thiamine deficiency and refeeding syndrome: Similar findings but different pathogenesis
42. Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation: K(ATP) channel inactivation mechanism and clinical management.
43. Congenital hyperinsulinism: Clinical and molecular analysis of a large Italian cohort
44. Congenital Hyperinsulinism and Glucose Hypersensitivity in Homozygous and Heterozygous Carriers of Kir6.2 (KCNJ11) Mutation V290M Mutation
45. Preemptive liver transplantation in a child with familial hypercholesterolemia
46. Impact of Growth Hormone Therapy on Adult Height of Children Born Small for Gestational Age
47. Isolation and Characterization of Omental Adipose Progenitor Cells in Children: A Potential Tool to Unravel the Pathogenesis of Metabolic Syndrome
48. Adipose Tissue: A Metabolic Regulator. Potential Implications for the Metabolic Outcome of Subjects Born Small for Gestational Age (SGA)
49. Low Birth Weight for Gestational Age Associates with Reduced Glucose Concentrations at Birth, Infancy and Childhood
50. Role of Pescadillo and Upstream Binding Factor in the Proliferation and Differentiation of Murine Myeloid Cells
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