228 results on '"Ged, C"'
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2. Hyperhomocystéinémie sévère induite par le givosiran au cours d’une porphyrie aiguë intermittente : le traitement par vitamine B6 est efficace
3. Syndrome of the trephined: When bone becomes the cure
4. ADAR1 splicing mutation leading to dyschromatosis hereditaria in a Caucasian patient
5. Recurrent posterior reversible encephalopathy syndrome in a patient with acute intermittent porphyria
6. Catalase overexpression reduces UVB-induced apoptosis in a human xeroderma pigmentosum reconstructed epidermis
7. Protection of normal human reconstructed epidermis from UV by catalase overexpression
8. Hematopoietic stem cell gene therapy of murine protoporphyria by methylguanine-DNA-methyltransferase-mediated in vivo drug selection
9. Lentivirus-mediated gene transfer of uroporphyrinogen III synthase fully corrects the porphyric phenotype in human cells
10. Therapeutic Potential of Proteasome Inhibitors in Congenital Erythropoietic Porphyria: OC22
11. Genetic Background Affects Anemia, Iron Metabolism, Hepatic and Renal Function in a Mouse Model of Congenital Erythropoietic Porphyria (CEP): OC20
12. Successful therapeutic effect in a mouse model of erythropoietic protoporphyria by partial genetic correction and fluorescence-based selection of hematopoietic cells
13. Usefulness of a global clinical ichthyosis vulgaris scoring system for predicting common FLG null mutations in an adult caucasian population
14. Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases
15. A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases
16. Rapid analysis and efficient selection of human transduced primitive hematopoietic cells using the humanized S65T green fluorescent protein
17. Gene transfer of the uroporphyrinogen III synthase cDNA into haematopoietic progenitor cells in view of a future gene therapy in congenital erythropoietic porphyria
18. Congenital erythropoietic porphyria: a genotype/phenotype correlation and health-related quality of life study of 27 unrelated cases: O-14
19. Correction of the enzyme deficit of bone marrow cells in congenital erythropoietic porphyria by retroviral gene transfer
20. Is genotyping useful for the screening of medium-chain acyl-CoA dehydrogenase deficiency in France?
21. Protective Effects of Catalase Overexpression on UVB-Induced Apoptosis in Normal Human Keratinocytes
22. Xeroderma pigmentosum in South Africa: Evidence for a prevalent founder effect
23. Compound heterozygosity for novel KRT85 variants associated with pure hair and nail ectodermal dysplasia
24. The cDNA sequence of mouse uroporphyrinogen III synthase and assignment to mouse Chromosome 7
25. Hemolytic anemia repressed hepcidin level without hepatocyte iron overload: lesson from Günther disease model
26. Reversed actinic damage in two children with xeroderma pigmentosum treated with topical imiquimod
27. ADAR1splicing mutation leading to dyschromatosis hereditaria in a Caucasian patient
28. Identification of a novel alpha1-antitrypsin variant
29. Porphyrie érythropoïétique congénitale traitée par allogreffe de cellules souches hématopoïétiques
30. Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients
31. Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis:Identification and characterization of six novel mutations associated with familial PCT
32. Usefulness of a global clinical ichthyosis vulgaris scoring system for predicting commonFLGnull mutations in an adult caucasian population
33. A Prospective Study of Filaggrin Null Mutations in Keratoconus Patients with or without Atopic Disorders
34. Analysis of SPINK 5, KLK 7 and FLG Genotypes in a French Atopic Dermatitis Cohort
35. Protection of normal human reconstructed epidermis from UV by catalase overexpression
36. A knock-in mouse model of congenital erythropoietic porphyria
37. Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT
38. 2.P.226 Serum lipids in hyperhomocysteinemic patients
39. 2.P.225 Effect of vitaminic therapy in hyperhomocysteinemic patients
40. Effet du traitement vitaminique dans la prise en charge de patients hyperhomocystéinémiques
41. Modèle de la porphyrie érythropoïétique congénitale pour le transfert de gènes dans les cellules hématopoïétiques
42. PRENATAL DIAGNOSIS IN CONGENITAL ERYTHROPOIETIC PORPHYRIA BY METABOLIC MEASUREMENT AND DNA MUTATION ANALYSIS
43. A Systematic Analysis of the Mutations of the Uroporphyrinogen III Synthase Gene in Congenital Erythropoietic Porphyria
44. Porphyrie érythropoïétique congénitale. À propos d'un cas fatal en période néonatale dûà une hémolyse aiguë avec insuffisance hépatique
45. Metabolic correction of congenital erythropoietic porphyria by retrovirus-mediated gene transfer into Epstein-Barr virus-transformed B- cell lines
46. Correction of the Enzyme Defect in Cultured Congenital Erythropoietic Porphyria Disease Cells by Retrovirus-Mediated Gene Transfer
47. Les porphyries héréditaires : de la pathologie moléculaire à la thérapie génique
48. Identification of Two New Mutations in Congenital Erythropoietic Porphyria
49. Relatedness of Three Species of "False Neisseriae," Neisseria caviae, Neisseria cuniculi, and Neisseria ovis, by DNA-DNA Hybridizations and Fatty Acid Analysis
50. Correction of the enzyme deficit of bone marrow cells in congenital erythropoietic porphyria by retroviral gene transfer.
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