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