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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 |
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 online resource (102 p.) |
| Soggetto topico | Medicine and Nursing |
| Soggetto non controllato |
abdominal obesity
acute rheumatic fever adolescents arterial stiffness association analysis birth weight blood pressure body-size trajectories cardio-metabolic health cardiovascular disease children cluster of differentiation 14 dietary intake expression G growth hookah hypercholesterolemia intima-media thickness MT-CYB mutation n/a nutrition obesity overweight physiology renin-angiotensin-aldosterone system rheumatic heart diseases rs2569190A> Senegal shisha single nucleotide polymorphisms tissue treatment weight management |
| 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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