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Cellular and Molecular Mechanisms of Nephropathic Cystinosis
| Cellular and Molecular Mechanisms of Nephropathic Cystinosis |
| Autore | Levtchenko Elena N |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 electronic resource (230 p.) |
| Soggetto topico |
Medicine
Pharmacology |
| Soggetto non controllato |
cystinosis
cysteamine bone osteoclast genotype CD34+ hematopoietic stem and progenitor cells gene therapy pre-clinical studies investigational new drug application clinical trial disulfiram mice zebrafish fertility azoospermia hypogonadism histopathology mouse model lysosomal storage disease cell and animal models infantile nephropathic cystinosis bone-muscle wasting fibroblast growth factor 23 osteoclasts sclerostin leptin fractures nephropathic cystinosis hollow fiber membrane 3-dimensional models autophagy macrophages inflammasome proximal tubular cells endocytosis apoptosis chitotriosidase interleukins galectin-3 novel therapies endolysosome epithelial cell differentiation homeostasis lysosomal storage diseases mitochondrial distress kidney proximal tubule programmed cell death central nervous system cortical atrophy arterial spin labelling cystine blood level lysosomal storage disorder history treatment strategies for cystinosis newborn screening clinical course CTNS-pathogenic variants newborn screening for cystinosis kidney progenitors cell model biomarkers cystine kidney therapeutic monitoring |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910585941103321 |
Levtchenko Elena N
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| Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Newborn Screening for Pompe Disease
| Newborn Screening for Pompe Disease |
| Autore | Hwu Wuh-Liang |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 |
| Descrizione fisica | 1 electronic resource (146 p.) |
| Soggetto topico | Technology: general issues |
| Soggetto non controllato |
Pompe disease
newborn screening diagnosis infantile onset Pompe disease late onset Pompe disease patient perspective California follow-up pseudodeficiency late-onset infantile-onset presymptomatic c.-32-13T& gt G infantile-onset Pompe disease GAA sequencing immune modulation therapy enzyme replacement therapy cross-reactive immunologic material genotype-phenotype correlation treatment and follow-up lysosomal storage diseases variant cut-off next generation sequencing dried blood spots new disorders implementation acid α-glucosidase alpha glucosidase Pompe disease diagnostics testing |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557494603321 |
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Hwu Wuh-Liang
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| Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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