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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 |
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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Nutrition, Genetics, and Cardiovascular Disease
| Nutrition, Genetics, and Cardiovascular Disease |
| Autore | El Ghoch Marwan |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2020 |
| Descrizione fisica | 1 electronic resource (102 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
renin-angiotensin-aldosterone system
tissue expression physiology dietary intake nutrition cardiovascular disease obesity hookah overweight shisha abdominal obesity weight management treatment adolescents arterial stiffness birth weight body-size trajectories cardio-metabolic health children growth intima-media thickness blood pressure acute rheumatic fever rheumatic heart diseases MT-CYB mutation Senegal hypercholesterolemia cluster of differentiation 14 rs2569190A> G single nucleotide polymorphisms association analysis |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557763203321 |
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El Ghoch Marwan
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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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