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Genetic Testing for Rare Diseases
| Genetic Testing for Rare Diseases |
| Autore | Millán José |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 electronic resource (144 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
retina
inherited retinal diseases syndrome Turner syndrome mosaicism ring chromosomes growth hormone deficiency pituitary microadenoma clinical genetics early onset ataxia dystonia neurodevelopment network analysis bioinformatics ataxia phenotype child NGS next generation sequencing inborn errors of metabolism lysosomal disorders neuromuscular disease genetic testing whole exome sequencing Prader-Willi syndrome imprinting disorder recombinant human growth hormone insulin-like growth factor 1 HMGLD HMGCL HMG-CoA lyase deficiency inherited metabolic diseases familial hearing loss multiple diagnoses non-syndromic hearing loss ACTG1 MYH9 genetic counselling rare diseases professional recognition hearing loss genetic diagnosis SLC26A4 DFNB4 Tuvinians Altaians Southern Siberia Russia GSDME DFNA5 single-exon CNV |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910566479203321 |
Millán José
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Recent Advances and Clinical Outcomes of Kidney Transplantation : Volume 2
| Recent Advances and Clinical Outcomes of Kidney Transplantation : Volume 2 |
| Autore | Cheungpasitporn Wisit |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2020 |
| Descrizione fisica | 1 electronic resource (270 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
malondialdehyde
oxidative stress new-onset diabetes renal transplantation BK virus BK virus nephropathy kidney allograft transplantation Alport syndrome children autosomal dominant polycystic kidney disease epidemiology hospitalization kidney transplantation subarachnoid hemorrhage malignancy post-transplant malignancy renal cell carcinoma meta-analysis systematic reviews tacrolimus C/D-ratio pharmacokinetics opportunistic infection allograft survival urological complications ureteric stent urinary tract infection timing of removal living donor ethnicity age obesity genetic relationship donor/recipient atypical hemolytic uremic syndrome eculizumab glucose intolerance insulin secretion insulin resistance oral glucose tolerance test healthy subject hyperchloremia kidney graft dysfunction living donor kidney transplantation Uropathogenic E. coli UPEC phylogeny genomics antibiotic resistance virulence traits night-time renal transplantation graft survival patient survival/outcome surgical complications acute rejection lymphocyte CD45RC Belatacept cardiovascular high risk outcome machine perfusion organ preservation temperature hypothermic normothermic transplant proton-pump inhibitors iron iron deficiency polyomavirus BKV kidney glomerulus BKVAN nephropathy fluid management delayed graft function goal-directed fluid therapy calcineurin inhibitor nephrotoxcity C/D ratio tacrolimus metabolism ADPKD native nephrectomy patient outcome perioperative complications epidermal growth factor creatinine graft failure new onset diabetes after renal transplantation single nucleotide polymorphisms urinary biomarkers α-GST π-GST nephrotoxicity urinary excretion of N1-methylnicotinamide mortality niacin status dietary intake tryptophan vitamin B3 Kidney transplant vitamin C cancer mortality mycophenolic acid immunosuppression plasmapheresis oxalate hyperoxaluria kidney transplant recipients post-transplantation diabetes mellitus all-cause mortality cardiovascular mortality infectious mortality magnesium hypomagnesaemia cancer kidney transplant survival living kidney donation living-donor kidney transplantation beliefs inequity ischemia reperfusion injury innate immune system adaptive immune system apoptosis necrosis hypoxic inducible factor endothelial dysfunction proton pump inhibitor transplant rejection GFR insulin-like growth factor 1 growth hormone muscle mass patient survival physical activity renal transplant recipients kidney transplant (KT) donor-specific antibodies (DSA) C3d-binding assay antibody-mediated rejection (AMR) arsenic diet fish consumption post-transplant diabetes mellitus N1-methyl-2-pyridone-5-carboxamide N1-methylnicotinamide urinary excretion kidney function biomarker branched chain amino acids posttransplant diarrhea methanogenesis Methanosphaera stadtmanae mucins sulfate-reducing bacteria acute humoral rejection first-line therapy outcomes proteasome inhibitor renal transplant transplant recipients calcineurin inhibitors FK506 pharmacokinetic fast tacrolimus metabolizers |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | Recent Advances and Clinical Outcomes of Kidney Transplantation |
| Record Nr. | UNINA-9910557787303321 |
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Cheungpasitporn Wisit
|
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| Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2020 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Recent Advances and Clinical Outcomes of Kidney Transplantation
| Recent Advances and Clinical Outcomes of Kidney Transplantation |
| Autore | Cheungpasitporn Wisit |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2020 |
| Descrizione fisica | 1 electronic resource (342 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
malondialdehyde
oxidative stress new-onset diabetes renal transplantation BK virus BK virus nephropathy kidney allograft transplantation Alport syndrome children autosomal dominant polycystic kidney disease epidemiology hospitalization kidney transplantation subarachnoid hemorrhage malignancy post-transplant malignancy renal cell carcinoma meta-analysis systematic reviews tacrolimus C/D-ratio pharmacokinetics opportunistic infection allograft survival urological complications ureteric stent urinary tract infection timing of removal living donor ethnicity age obesity genetic relationship donor/recipient atypical hemolytic uremic syndrome eculizumab glucose intolerance insulin secretion insulin resistance oral glucose tolerance test healthy subject hyperchloremia kidney graft dysfunction living donor kidney transplantation Uropathogenic E. coli UPEC phylogeny genomics antibiotic resistance virulence traits night-time renal transplantation graft survival patient survival/outcome surgical complications acute rejection lymphocyte CD45RC Belatacept cardiovascular high risk outcome machine perfusion organ preservation temperature hypothermic normothermic transplant proton-pump inhibitors iron iron deficiency polyomavirus BKV kidney glomerulus BKVAN nephropathy fluid management delayed graft function goal-directed fluid therapy calcineurin inhibitor nephrotoxcity C/D ratio tacrolimus metabolism ADPKD native nephrectomy patient outcome perioperative complications epidermal growth factor creatinine graft failure new onset diabetes after renal transplantation single nucleotide polymorphisms urinary biomarkers α-GST π-GST nephrotoxicity urinary excretion of N1-methylnicotinamide mortality niacin status dietary intake tryptophan vitamin B3 Kidney transplant vitamin C cancer mortality mycophenolic acid immunosuppression plasmapheresis oxalate hyperoxaluria kidney transplant recipients post-transplantation diabetes mellitus all-cause mortality cardiovascular mortality infectious mortality magnesium hypomagnesaemia cancer kidney transplant survival living kidney donation living-donor kidney transplantation beliefs inequity ischemia reperfusion injury innate immune system adaptive immune system apoptosis necrosis hypoxic inducible factor endothelial dysfunction proton pump inhibitor transplant rejection GFR insulin-like growth factor 1 growth hormone muscle mass patient survival physical activity renal transplant recipients kidney transplant (KT) donor-specific antibodies (DSA) C3d-binding assay antibody-mediated rejection (AMR) arsenic diet fish consumption post-transplant diabetes mellitus N1-methyl-2-pyridone-5-carboxamide N1-methylnicotinamide urinary excretion kidney function biomarker branched chain amino acids posttransplant diarrhea methanogenesis Methanosphaera stadtmanae mucins sulfate-reducing bacteria acute humoral rejection first-line therapy outcomes proteasome inhibitor renal transplant transplant recipients calcineurin inhibitors FK506 pharmacokinetic fast tacrolimus metabolizers |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557632603321 |
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Cheungpasitporn Wisit
|
||
| Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2020 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||