57 results on '"ANDRIA, GENEROSO"'
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2. The contribution of the citrate pathway to oxidative stress in Down syndrome
3. Early diagnosis of Gaucher disease in pediatric patients: Proposal for a diagnostic algorithm
4. Complex chromosomal rearrangements causing Langer–Giedion syndrome atypical phenotype: Genotype–phenotype correlation and literature review
5. Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and agalsidase alpha in cultured fibroblasts from patients with Fabry disease
6. Clinical description of a patient carrying the smallest reported deletion involving 10p14 region
7. Synergy between the pharmacological chaperone 1‐deoxygalactonojirimycin and the human recombinant alpha‐galactosidase A in cultured fibroblasts from patients with Fabry disease
8. Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22
9. The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann–Pick disease type C after therapy with miglustat
10. Lysinuric protein intolerance: Reviewing concepts on a multisystem disease
11. Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly
12. The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach
13. Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy
14. A simplified test to detect PKU heterozygotes by discriminant analysis in mentally retarded children and their mothers
15. CFC syndrome: report of familial cases
16. Atypical expression of ß-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities
17. Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman
18. Accumulation of altered aspartyl residues in erythrocyte proteins from patients with Down's syndrome
19. Clinical phenotype of lathosterolosis
20. Response to “Folate Gene Polymorphisms and the Risk of Down Syndrome Pregnancies in Young Italian Women” by Coppedè et al. [2006]
21. Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review
22. How many loci for the His475Tyr polymorphism of the glutamate carboxypeptidase II gene?
23. Reply
24. A new patient with Lowry–Wood syndrome with mild phenotype
25. New syndrome with generalized lipodystrophy and a distinctive facial appearance: Confirmation of Keppen-Lubinski syndrome?
26. X‐linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability
27. No mutation in theTRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V
28. Unbalanced translocation (3;5)(q26.1;p14): A clinical report
29. Prevalence and Clinical Picture of Celiac Disease in Italian Down Syndrome Patients: A Multicenter Study
30. Congenital insensitivity to pain with anhidrosis: An NGF/TrkA-related disorder
31. New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia
32. Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report
33. A novel mutation of the β‐glucocererebrosidase gene associated with neurologic manifestations in three sibs
34. X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene
35. Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21) (p16.3;q22.1): Relevance to the Wolf-Hirschhorn and Down syndrome critical regions
36. Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene
37. Megalocornea and mental retardation syndrome: Two new cases
38. Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship
39. More on X‐Linked ichthyosis, steroid sulfatase deficiency, and hypogonadism and anosmia
40. Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22
41. HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis‐like presentation
42. Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study
43. Unbalanced translocation (3;5)(q26.1;p14): A clinical report
44. Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman
45. X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene
46. Molecular analysis of patients affected by homocystinuria due to cystathionine β-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11
47. Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and agalsidase alpha in cultured fibroblasts from patients with Fabry disease
48. Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene
49. MULTISYSTEM INVOLVEMENT IN CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS (CIPA), A NERVE GROWTH FACTOR RECEPTOR (TRK A)-RELATED DISORDER
50. Megalocornea and mental retardation syndrome: Two new cases
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