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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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Diet Therapy and Nutritional Management of Phenylketonuria
| Diet Therapy and Nutritional Management of Phenylketonuria |
| Autore | MacDonald Anita |
| Pubbl/distr/stampa | MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 electronic resource (376 p.) |
| Soggetto topico |
Research & information: general
Biology, life sciences Food & society |
| Soggetto non controllato |
phenylketonuria
special low protein foods nutritional composition UK macronutrients phenylketonuria (PKU) consensus Delphi method food labelling phenylalanine Phe protein exchanges PKU glycomacropeptide amino acid absorption diet therapy protein substitute gastrointestinal symptoms prolonged release satiety macronutrient intake protein content free from gluten free aspartame sugar tax phenylalanine hydroxylase deficiency hyperphenylalaninemia medical formula amino acid mixture tetrahydrobiopterin sapropterin BH4 body composition bone mineral density bone turnover markers osteoporosis blood biochemistry casein glycomacropeptide amino acid protein substitute low-protein diet newborn screening metabolic control guidelines nitrogen balance amino acid catabolism blood urea nitrogen body mass index obesity overweight phenylalanine restriction phenylalanine-restricted diet food school IHCP parent/caregiver experiences England prescribing patterns costs adult phenylketonuria standard operating procedure inherited metabolic disorders dietary management eating out low protein food restaurants amino acids adherence epigenetics health preconception women dietary patterns food frequency questionnaire validation reproducibility |
| ISBN | 3-0365-5320-7 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910619462903321 |
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MacDonald Anita
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| MDPI - Multidisciplinary Digital Publishing Institute, 2022 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches
| Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches |
| Autore | Moro Enrico |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 |
| Descrizione fisica | 1 electronic resource (301 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
mucopolysaccharidosis IIIB
quantitative proteomics NAGLU lysosomes Gaucher disease bone involvement enzyme replacement therapy substrate reduction therapy Osteoimmunology RANK/RANKL Osteopontin MIP-1β mucolipidosis II sortilin TGF-beta cathepsin D Fabry disease alpha-galactosidase A endocytosis lysosome IGF2R/M6P clathrin chloroquine lysosomal diseases precision medicine pharmacological chaperones gene therapy Pompe disease lysosomal targeting autophagy muscle satellite cells rhGAA glycogen lysosomal α-glucosidase GAA biomarker Gaucher Disease Wnt/β-catenin Dkk1 Wnt3a iPSC neuronopathy Krabbe disease Twitcher mouse psychosine visual system visual cortex astrogliosis mucopolysaccharidosis type I Hurler syndrome hematopoietic stem cell transplantations animal models experimental therapies axon guidance lysosomal storage disorders neuronal circuit α-galactosidase A A4GALT globotriaosylceramide (Gb3) globotriaosyl-sphingosine (lysoGb3) pharmacological chaperone therapy exosomes endocytic pathways neurodegenerative disease Parkinson disease lysosomal storage disorder viral vectors newborn screening variant interpretation second tier test tandem mass spectrometry lyso-Gb3 dried blood spot GLA gene globotriaosylsphingosine biomarkers |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | Lysosomal Storage Disorders |
| Record Nr. | UNINA-9910557545503321 |
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Moro Enrico
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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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Molecular Basis and Gene Therapies of Cystic Fibrosis
| Molecular Basis and Gene Therapies of Cystic Fibrosis |
| Autore | Engelhardt John |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2020 |
| Descrizione fisica | 1 electronic resource (210 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
cystic fibrosis
Staphylococcus aureus superantigen enterotoxin gene cluster MRSA exosomes microvesicles lung primary cells newborn screening trypsinogen CFTR gene next generation sequencing health policy rAAV2/HBoV1 baculovirus insect cells lung microbiome metagenomics gut–lung axis Cystic fibrosis CFTR transcriptomics proteostasis small molecules drug development common and new pathogenic variants ethnic Russian population gene therapy cyclophosphamide transient immunosuppression incidence survival genotype-phenotype correlations health policies CFTR modulators human nasal epithelial cells organoids biomarker functional assay pre-clinical in vitro models CFTR-related disorders molecular diagnosis CFTR variants Next Generation Sequencing (NGS) disease liability interpretation penetrance genotype-guided therapy miRNA airway basal cell lentivirus |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557392203321 |
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Engelhardt John
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| Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2020 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Neonatal Screening for Critical Congenital Heart Defects
| Neonatal Screening for Critical Congenital Heart Defects |
| Autore | Ewer Andrew |
| Pubbl/distr/stampa | MDPI - Multidisciplinary Digital Publishing Institute, 2019 |
| Descrizione fisica | 1 electronic resource (98 p.) |
| Soggetto non controllato |
altitude
CCHD screening in the US screening coarctation of aorta oxygen saturation neonates critical congenital heart disease screening newborn screening pulse oximetry home births health policy congenital heart disease neonatal screening pulse oximetry cost-effectiveness hypoxia neonate newborn critical congenital heart disease state screening pulse oximetry screening economic evaluation screening algorithm newborn screening Germany congenital heart defects |
| ISBN | 3-03921-049-1 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910346681703321 |
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Ewer Andrew
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| MDPI - Multidisciplinary Digital Publishing Institute, 2019 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Newborn Screening for Cystic Fibrosis
| Newborn Screening for Cystic Fibrosis |
| Autore | Barben Jürg |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2020 |
| Descrizione fisica | 1 electronic resource (126 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
newborn screening
immunoreactive trypsin(ogen) dried blood spot radioimmunoassay DNA cystic fibrosis incidence malnutrition cost health policy CF transmembrane conductance regulator-related metabolic syndrome CF screen positive inconclusive diagnosis DNA analysis next generation sequencing extended genetic analysis presumptive diagnosis sweat test parental information newborn bloodspot screening psychological impact biochemical screening pancreatitis associated protein immunoreactive trypsinogen cystic fibrosis screen positive inconclusive diagnosis (CFSPID) bioethics newborn screen target disorder missed case sensitivity CFSPID immunoreactive trypsin meconium ileus diagnosis therapy prognosis |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557291703321 |
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Barben Jürg
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| Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2020 | ||
| 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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Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies
| Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies |
| Autore | Colombatti Raffaella |
| Pubbl/distr/stampa | MDPI - Multidisciplinary Digital Publishing Institute, 2019 |
| Descrizione fisica | 1 electronic resource (162 p.) |
| Soggetto non controllato |
glucose-6-phosphate dehydrogenase
hydroxyurea/hydroxycarbamide cord blood screening hemoglobin pattern capillary electrophoresis sickle cell disease (recommended) screening panel vaso-occlusive crisis Guthrie spots newborn screening) foetal haemoglobin harmonisation review birth prevalence G6PD deficiency prevention end-organ damage thalassemia MALDI-TOF IEF acute chest syndrome India sickle cell and thalassaemia screening programme 'Getting to Outcomes' newborn screening hemoglobinopathy service users public health engagement automated HPLC Kaduna State gene therapy for haemoglobinopathies ?-globin gene methods neonatal screening program malaria Plasmodium vivax sub-Saharan Africa patient organisations health policy pathophysiology Sickle Cell Disease mass spectrometry sickle cell disorder neonatal screening non-tribal Nigeria point-of-care HPLC laboratory methods registry patient advocacy bone marrow transplant anaemia hemoglobinopathies tribal newborn burden of disease patient representatives diagnostics policy making haemolysis Caribbean high performance liquid chromatography (HPLC) sickle cell disease (SCD) implementation science |
| ISBN | 3-03921-615-5 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910367754603321 |
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Colombatti Raffaella
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| MDPI - Multidisciplinary Digital Publishing Institute, 2019 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Towards Mechanism-based Treatments for Fragile X Syndrome
| Towards Mechanism-based Treatments for Fragile X Syndrome |
| Autore | Kumari Daman |
| Pubbl/distr/stampa | MDPI - Multidisciplinary Digital Publishing Institute, 2019 |
| Descrizione fisica | 1 electronic resource (250 p.) |
| Soggetto non controllato |
lymphoblast
pluripotent stem cells FMR1 Gene editing X chromosome Fmr1 epigenetic gene silencing FMR1 gene Fragile X syndrome 1 repeat instability characteristics that have the greatest impact DNA instability working memory language development mosaicism CRISPR 3 clinical trials autism spectrum disorders Fmr1 KO mouse automated vocal analysis base excision repair (BER) inhibitory control cerebral spinal fluid iPSC drug development targeted treatments molecular biomarkers viral vector avoidance biomarker set-shifting early identification expansion anxiety planning voice of the person mismatch repair (MMR) gene reactivation double-strand break repair (DSBR) newborn screening intellectual disability processing speed voice of the patient fragile X syndrome adeno-associated virus neurodevelopmental disorders histone methylation Non-homologous end-joining (NHEJ) ASD Fxr2 Fragile X-associated Tremor/Ataxia Syndrome 2 Trinucleotide Repeat 4 CGG Repeat Expansion Disease DNA methylation contraction fragile X mental retardation protein RNA:DNA hybrid behavior developmental disorders cognition females FMRP Fragile X Syndrome unstable repeat diseases protein synthesis brain cognitive flexibility treatment development fibroblast PRC2 transcription coupled repair (TCR) best practices attention Fragile X executive function |
| ISBN | 3-03921-506-X |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910367759103321 |
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Kumari Daman
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| MDPI - Multidisciplinary Digital Publishing Institute, 2019 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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