722 results on '"ANDRIA, GENEROSO"'
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2. Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib
3. Parkinson’s disease in Gaucher disease patients: what’s changing in the counseling and management of patients and their relatives?
4. Reduced bone mineral density in glycogen storage disease type III: evidence for a possible connection between metabolic imbalance and bone homeostasis
5. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
6. Low-Dose Amitriptyline-Induced Acute Dystonia in a Patient with Metachromatic Leukodystrophy
7. Inborn Errors of Metabolism
8. Disorders of Sulfur Amino Acid Metabolism
9. Genetic Risk Factors for Neural Tube Defects: Folic Acid Supplementation and Prevention of Birth Defects
10. Oligosaccharidoses and Related Disorders
11. Disorders of Sulfur Amino Acid Metabolism
12. Liver-Directed Adeno-Associated Virus–Mediated Gene Therapy for Mucopolysaccharidosis Type VI
13. Oligosaccharidoses and Related Disorders
14. Vascular Complications of Homocystinuria: Incidence, Clinical Pattern and Treatment
15. Disorders of Sulfur Amino Acid Metabolism
16. Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis
17. Inborn Errors of Metabolism and Newborns
18. Homocysteine and Vascular Disease: The European Concerted Action Project
19. Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib
20. Genetic Heterogeneity in Five Italian Regions : Analysis of PAH Mutations and Minihaplotypes
21. Progression of Renal Damage in Glycogen Storage Disease Type I Is Associated to Hyperlipidemia: A Multicenter Prospective Italian Study
22. Early diagnosis of Gaucher disease in pediatric patients: Proposal for a diagnostic algorithm
23. Testing for Tetrahydrobiopterin Responsiveness in Patients with Hyperphenylalaninemia due to Phenylalanine Hydroxylase Deficiency
24. Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease
25. The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach
26. Pharmacological chaperone therapy for lysosomal storage diseases
27. Complex chromosomal rearrangements causing Langer–Giedion syndrome atypical phenotype: Genotype–phenotype correlation and literature review
28. Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance
29. Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature
30. Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring
31. Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements
32. Low-Dose Amitriptyline-Induced Acute Dystonia in a Patient with Metachromatic Leukodystrophy
33. Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3[beta]-hydroxysteroid-[[DELTA].sup.5]-desaturase. (Report)
34. The Role of Iron Toxicity in Oxidative Stress-induced Cellular Degeneration in Down Syndrome: Protective Effects of Phenolic Antioxidants
35. Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22
36. The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat
37. Lysinuric Protein Intolerance: Reviewing Concepts on a Multisystem Disease
38. Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly
39. Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor
40. The Pharmacological Chaperone 1-Deoxynojirimycin Increases the Activity and Lysosomal Trafficking of Multiple Mutant Forms of Acid Alpha-Glucosidase
41. Functional and structural characterization of novel mutations and genotype–phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy
42. Homocystinuria due to cystathionine β-synthase (CBS) deficiency
43. Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman
44. Lysinuric Protein Intolerance: Update and Extended Mutation Analysis of the SLC7A7 Gene
45. Clinical phenotype of lathosterolosis
46. Accumulation of altered aspartyl residues in erythrocyte proteins from patients with Downʼs syndrome
47. Response to “Folate Gene Polymorphisms and the Risk of Down Syndrome Pregnancies in Young Italian Women” by Coppedè et al. [2006]
48. Diversity of Cystathionine b-Synthase Haplotypes Bearing the Most Common Homocystinuria Mutation c.833T > C: A Possible Role for Gene Conversion
49. Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata
50. Plasma homocysteine as a risk factor for vascular disease: the European Concerted Action Project
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