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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 online resource (230 p.) |
| Soggetto topico |
Medicine and Nursing
Pharmacology |
| Soggetto non controllato |
3-dimensional models
apoptosis arterial spin labelling autophagy azoospermia biomarkers bone bone-muscle wasting CD34+ hematopoietic stem and progenitor cells cell and animal models cell model central nervous system chitotriosidase clinical course clinical trial cortical atrophy CTNS-pathogenic variants cysteamine cystine cystine blood level cystinosis disulfiram endocytosis endolysosome epithelial cell differentiation fertility fibroblast growth factor 23 fractures galectin-3 gene therapy genotype histopathology history hollow fiber membrane homeostasis hypogonadism infantile nephropathic cystinosis inflammasome interleukins investigational new drug application kidney kidney progenitors kidney proximal tubule leptin lysosomal storage disease lysosomal storage diseases lysosomal storage disorder macrophages mice mitochondrial distress mouse model nephropathic cystinosis newborn screening newborn screening for cystinosis novel therapies osteoclast osteoclasts pre-clinical studies programmed cell death proximal tubular cells sclerostin therapeutic monitoring treatment strategies for cystinosis zebrafish |
| 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 online resource (146 p.) |
| Soggetto topico | Technology: general issues |
| Soggetto non controllato |
acid α-glucosidase
alpha glucosidase c.-32-13T& California cross-reactive immunologic material diagnosis dried blood spots enzyme replacement therapy follow-up G GAA sequencing genotype-phenotype correlation gt immune modulation therapy infantile onset Pompe disease infantile-onset infantile-onset Pompe disease late onset Pompe disease late-onset lysosomal storage diseases n/a new disorders implementation newborn screening next generation sequencing patient perspective Pompe disease Pompe disease diagnostics testing presymptomatic pseudodeficiency treatment and follow-up variant cut-off |
| 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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