449 results on '"Strisciuglio, Pietro"'
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2. Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature
3. Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel
4. Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity
5. RASopathies and hemostatic abnormalities: key role of platelet dysfunction
6. An asymptomatic father diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency following his son newborn screening test
7. Ensuring continuity of care for children with inherited metabolic diseases at the time of COVID-19: the experience of a metabolic unit in Italy
8. Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?
9. Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder
10. Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
11. Parkinson’s disease in Gaucher disease patients: what’s changing in the counseling and management of patients and their relatives?
12. Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement
13. Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content
14. Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1
15. Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
16. Additional file 6 of Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
17. Additional file 2 of Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
18. Additional file 5 of Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
19. Additional file 1 of Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
20. Additional file 4 of Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
21. Additional file 3 of Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
22. Additional file 7 of Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
23. Obstructive Sleep Apnoea in Children with Down Syndrome: A Multidisciplinary Approach
24. Norrbottnian clinical variant of Gaucher disease in Southern Italy
25. Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues
26. Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS
27. Myocardial deformation in pediatric patients with mucopolysaccharidoses: A two‐dimensional speckle tracking echocardiography study
28. Obstructive Sleep Apnoea in Children with Down Syndrome: A Multidisciplinary Approach.
29. Can early physical therapy positively affect the onset of independent walking in infants with Down syndrome? A retrospective cohort study
30. Beneficial Effects of Slow-Release Large Neutral Amino Acids after a Phenylalanine Oral Load in Patients with Phenylketonuria
31. Author response for 'Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings'
32. Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy
33. Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort
34. Bone Metabolism In Patients With Type 1 Neurofibromatosis: Key Role of Sun Exposure and Physical Activity
35. Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings
36. Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature
37. Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report
38. Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report
39. Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report.
40. Additional file 2 of Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report
41. Additional file 3 of Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report
42. Additional file 1 of Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report
43. Successful management of neonatal renal venous thrombosis
44. Prevalence and natural history of gastroesophageal reflux: Pediatric Prospective Survey
45. Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity
46. Epigallocatechin-3-Gallate Plus Omega-3 Restores the Mitochondrial Complex I and F0F1-ATP Synthase Activities in PBMCs of Young Children with Down Syndrome: A Pilot Study of Safety and Efficacy
47. Which cystography in the diagnosis and grading of vesicoureteral reflux?
48. Additional file 2 of Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement
49. Additional file 1 of Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement
50. Long-term treatment with recombinant insulin-like growth factor 1 (IGF-1) in a child with IGF-1 gene mutation
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