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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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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 online resource (301 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
A4GALT
alpha-galactosidase A animal models astrogliosis autophagy axon guidance biomarkers bone involvement cathepsin D chloroquine clathrin Dkk1 dried blood spot endocytic pathways endocytosis enzyme replacement therapy exosomes experimental therapies Fabry disease GAA biomarker Gaucher disease Gaucher Disease gene therapy GLA gene globotriaosyl-sphingosine (lysoGb3) globotriaosylceramide (Gb3) globotriaosylsphingosine glycogen hematopoietic stem cell transplantations Hurler syndrome IGF2R/M6P iPSC Krabbe disease lyso-Gb3 lysosomal diseases lysosomal storage disorder lysosomal storage disorders lysosomal targeting lysosomal α-glucosidase lysosome lysosomes MIP-1β mucolipidosis II mucopolysaccharidosis IIIB mucopolysaccharidosis type I muscle NAGLU neurodegenerative disease neuronal circuit neuronopathy newborn screening Osteoimmunology Osteopontin Parkinson disease pharmacological chaperone therapy pharmacological chaperones Pompe disease precision medicine psychosine quantitative proteomics RANK/RANKL rhGAA satellite cells second tier test sortilin substrate reduction therapy tandem mass spectrometry TGF-beta Twitcher mouse variant interpretation viral vectors visual cortex visual system Wnt/β-catenin Wnt3a α-galactosidase A |
| 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 online resource (210 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
airway basal cell
baculovirus biomarker CFTR CFTR gene CFTR modulators CFTR variants CFTR-related disorders common and new pathogenic variants cyclophosphamide cystic fibrosis Cystic fibrosis disease liability drug development enterotoxin gene cluster ethnic Russian population exosomes functional assay gene therapy genotype-guided therapy genotype-phenotype correlations gut-lung axis health policies health policy human nasal epithelial cells incidence insect cells interpretation lentivirus lung lung microbiome metagenomics microvesicles miRNA molecular diagnosis MRSA newborn screening next generation sequencing Next Generation Sequencing (NGS) organoids penetrance pre-clinical in vitro models primary cells proteostasis rAAV2/HBoV1 small molecules Staphylococcus aureus superantigen survival transcriptomics transient immunosuppression trypsinogen |
| 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 / Andrew Ewer
| Neonatal Screening for Critical Congenital Heart Defects / Andrew Ewer |
| 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 |
9783039210497
3039210491 |
| 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 online resource (126 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
biochemical screening
bioethics CF screen positive CF transmembrane conductance regulator-related metabolic syndrome CFSPID cost cystic fibrosis cystic fibrosis screen positive diagnosis DNA DNA analysis dried blood spot extended genetic analysis health policy immunoreactive trypsin immunoreactive trypsin(ogen) immunoreactive trypsinogen incidence inconclusive diagnosis inconclusive diagnosis (CFSPID) malnutrition meconium ileus missed case n/a newborn bloodspot screening newborn screen newborn screening next generation sequencing pancreatitis associated protein parental information presumptive diagnosis prognosis psychological impact radioimmunoassay sensitivity sweat test target disorder therapy |
| 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 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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Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies / Elena Cela, Jacques Elion, Stephan Lobitz, Raffaella Colombatti
| Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies / Elena Cela, Jacques Elion, Stephan Lobitz, Raffaella Colombatti |
| Autore | Cela Elena |
| Pubbl/distr/stampa | MDPI - Multidisciplinary Digital Publishing Institute, 2019 |
| Descrizione fisica | 1 electronic resource (162 p.) |
| Soggetto topico | Chemistry |
| 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 |
9783039216154
3039216155 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910367754603321 |
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Cela Elena
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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 / Inbal Gazy, Daman Kumari
| Towards Mechanism-based Treatments for Fragile X Syndrome / Inbal Gazy, Daman Kumari |
| Autore | Gazy Inbal |
| Pubbl/distr/stampa | MDPI - Multidisciplinary Digital Publishing Institute, 2019 |
| Descrizione fisica | 1 electronic resource (250 p.) |
| Soggetto topico | Biology, life sciences |
| 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 |
9783039215065
303921506X |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910367759103321 |
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Gazy Inbal
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| MDPI - Multidisciplinary Digital Publishing Institute, 2019 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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