Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience / Alice Maguolo, Giulia Rodella, Alice Dianin, Roberta Nurti, Irene Monge, Erika Rigotti, Gaetano Cantalupo, Leonardo Salviati, Sara Tucci, Francesca Pellegrini, Grazia Molinaro, F. Lupi, Paola Tonin, Andrea Pasini, Natascia Campostrini, Florina Ion Popa, Francesca Teofoli, Monica Vincenzi, Marta Camilot, Giorgio Piacentini, Andrea Bordugo
| Medienart: |
E-Book |
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| Erscheinungsjahr: |
2020 |
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| Erschienen: |
Amsterdam u.a.: Elsevier BV ; 2020 Freiburg: Albert-Ludwigs-Universität Freiburg ; 2020 |
| Enthalten in: |
Molecular genetics and metabolism reports - 24 (2020), 100632 |
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| Sprache: |
Englisch |
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| Beteiligte Personen: |
Maguolo, Alice [VerfasserIn] |
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| Links: |
nbn-resolving.de [kostenfrei] |
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| Themen: |
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| Anmerkungen: |
Enthält eine pdf-Datei und eine zip-Datei |
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| Umfang: |
1 Online-Ressource (9 Seiten) ; 1 Datei (Supplementary data) |
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| doi: |
10.1016/j.ymgmr.2020.100632 |
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| Weitere IDs: |
urn:nbn:de:bsz:25-freidok-1669406 FRUB-opus-166940 |
| funding: |
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| Förderinstitution / Projekttitel: |
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