791 results on '"Parenti, Giancarlo"'
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2. The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)
3. A specific serum lipid signature characterizes patients with glycogen storage disease type Ia
4. Biomarkers for gene therapy clinical trials of lysosomal storage disorders
5. Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation
6. RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome
7. How dietary advanced glycation end products could facilitate the occurrence of food allergy
8. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
9. The Mucopolysaccharidoses
10. Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel
11. Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease.
12. Start, switch and stop (triple‐S) criteria for enzyme replacement therapy of late‐onset Pompe disease: European Pompe Consortium recommendation update 2024.
13. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial
14. Cervical spondylolisthesis in mucopolysaccharidosis type II
15. Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant
16. Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease:European Pompe Consortium recommendation update 2024
17. Adolescent gender dysphoria management: position paper from the Italian Academy of Pediatrics, the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, the Italian Society of Adolescent Medicine and the Italian Society of Child and Adolescent Neuropsychiatry
18. PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations
19. Inborn Errors of Metabolism and Newborns
20. Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency
21. Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease
22. An asymptomatic father diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency following his son newborn screening test
23. Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis.
24. Postbiotic Preparation of Lacticaseibacillus rhamnosus GG against Diarrhea and Oxidative Stress Induced by Spike Protein of SARS-CoV-2 in Human Enterocytes
25. Ensuring continuity of care for children with inherited metabolic diseases at the time of COVID-19: the experience of a metabolic unit in Italy
26. microRNAs as biomarkers in Pompe disease
27. The rapidly evolving view of lysosomal storage diseases
28. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
29. Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
30. Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib
31. Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement
32. Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy
33. Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?
34. Differentially expressed miRNAs may help explaining the pathogenesis of relevant 22q11.2 clinical manifestations
35. Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy
36. Reduced bone mineral density in glycogen storage disease type III: evidence for a possible connection between metabolic imbalance and bone homeostasis
37. The Mucopolysaccharidoses
38. Additional file 6 of Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
39. Additional file 2 of Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
40. Additional file 5 of Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
41. Additional file 1 of Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
42. Additional file 4 of Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
43. Additional file 3 of Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
44. Additional file 7 of Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
45. Inborn Errors of Metabolism
46. Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues
47. Precision medicine in action for Pompe disease
48. Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency
49. Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation.
50. New treatments for the mucopolysaccharidoses: from pathophysiology to therapy
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