79 results on '"Strisciuglio, Pietro"'
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2. Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
3. Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
4. Obstructive Sleep Apnoea in Children with Down Syndrome: A Multidisciplinary Approach
5. Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues
6. Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity
7. Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel
8. Can early physical therapy positively affect the onset of independent walking in infants with Down syndrome? A retrospective cohort study
9. RASopathies and hemostatic abnormalities: key role of platelet dysfunction
10. Beneficial Effects of Slow-Release Large Neutral Amino Acids after a Phenylalanine Oral Load in Patients with Phenylketonuria
11. Bone Metabolism In Patients With Type 1 Neurofibromatosis: Key Role of Sun Exposure and Physical Activity
12. Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings
13. Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature
14. Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report
15. Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report
16. Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity
17. 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
18. Parkinson’s disease in Gaucher disease patients: what’s changing in the counseling and management of patients and their relatives?
19. Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience
20. Ensuring continuity of care for children with inherited metabolic diseases at the time of COVID-19: the experience of a metabolic unit in Italy
21. Primrose syndrome: Characterization of the phenotype in 42 patients
22. Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement
23. Clinical significance of family history and bicuspid aortic valve in children and young adult patients with Marfan syndrome
24. Large Neutral Amino Acids (LNAAs) Supplementation Improves Neuropsychological Performances in Adult Patients with Phenylketonuria
25. Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations
26. Hypermethioninemia in Campania: Results from 10 years of newborn screening
27. Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content
28. Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1
29. Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders
30. A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment
31. Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?
32. Can early physical therapy positively affect the onset of independent walking in infants with Down syndrome? A retrospective cohort study
33. Gait disturbance and lower limb pain in a patient with PIK3CA -related disorder
34. Myocardial deformation in pediatric patients with mucopolysaccharidoses: A two-dimensional speckle tracking echocardiography study
35. Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS
36. Norrbottnian clinical variant of Gaucher disease in Southern Italy
37. Novelty in hypertension in children and adolescents: focus on hypertension during the first year of life, use and interpretation of ambulatory blood pressure monitoring, role of physical activity in prevention and treatment, simple carbohydrates and uric acid as risk factors
38. Gastrointestinal Symptoms of Patients with Fabry Disease
39. Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience
40. New Strategies for the Treatment of Phenylketonuria (PKU)
41. Successful management of neonatal renal venous thrombosis
42. Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy
43. Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly
44. Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report
45. Celiac Disease: Predictors of Compliance With a Gluten-free Diet in Adolescents and Young Adults
46. Long-term treatment with recombinant insulin-like growth factor 1 (IGF-1) in a child with IGF-1 gene mutation
47. Prevalence and Natural History of Gastroesophageal Reflux: Pediatric Prospective Survey
48. Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients
49. Precocious puberty in Sanfilippo IIIA disease: Diagnosis and follow-up of two new cases
50. Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases
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