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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 |
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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New Insights in the Genetics and Genomics of Adrenocortical Tumors and Pheochromocytomas
| New Insights in the Genetics and Genomics of Adrenocortical Tumors and Pheochromocytomas |
| Autore | Igaz Peter |
| Pubbl/distr/stampa | Basel, : MDPI - Multidisciplinary Digital Publishing Institute, 2022 |
| Descrizione fisica | 1 electronic resource (272 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
pheochromocytoma
paraganglioma genetics non-coding RNA malignancy biomarker treatment adaptive metabolism adrenal gland conn adenoma fatty acid metabolism ferroptosis hyperaldosteronism metabolic reprogramming β-oxidation PPARα tumor microenvironment Next Generation Sequencing hereditary cancer endocrine tumor syndrome KCNJ5 somatic mutation pulse wave velocity aldosterone-producing adenoma adrenalectomy propensity score matching arterial stiffness pheochromocytomas paragangliomas mutations susceptibility genes driver mutations hereditary germline somatic environment variants tumor suppressor genes metastatic RNAseq next generation sequencing adrenocortical carcinoma in silico analysis machine learning bioinformatic clustering biomarker prediction aldosterone producing adenoma ATP2B3 K416-F418delinsN mutation primary aldosteronism PPGL telomeres TERT ATRX NOP10 prognostic biomarker ALT phaeochromocytoma cancer mitochondrial complex II zebrafish therapy drug discovery redox balance pathway Vitamin C mitotane H295 strains microRNA aldosterone circulating adrenocortical transcriptomics epigenetics metabolomics epidemiology genetic analysis mortality surveillance TP53 R337H genetic testing adrenocortical tumor neonatal screening screening adenoma adrenal tissue artificial intelligence neural network |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557609003321 |
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Igaz Peter
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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 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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