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| Verfasst von: | Opladen, Thomas [VerfasserIn]  |
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| | Gleich, Florian [VerfasserIn] |
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| | Kozich, Viktor [VerfasserIn] |
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| | Scarpa, Maurizio [VerfasserIn] |
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| | Martinelli, Diego [VerfasserIn] |
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| | Schaefer, Franz [VerfasserIn] |
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| | Jeltsch, Kathrin [VerfasserIn] |
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| | Juliá-Palacios, Natalia [VerfasserIn] |
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| | García-Cazorla, Ángels [VerfasserIn] |
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| | Dionisi-Vici, Carlo [VerfasserIn] |
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| | Kölker, Stefan [VerfasserIn] |
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| Titel: | U-IMD |
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| Titelzusatz: | the first Unified European registry for inherited metabolic diseases |
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| Verf.angabe: | Thomas Opladen, Florian Gleich, Viktor Kozich, Maurizio Scarpa, Diego Martinelli, Franz Schaefer, Kathrin Jeltsch, Natalia Juliá-Palacios, Ángels García-Cazorla, Carlo Dionisi-Vici and Stefan Kölker |
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| E-Jahr: | 2021 |
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| Jahr: | 18 February 2021 |
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| Umfang: | 10 S. |
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| Fussnoten: | Gesehen am 20.02.2023 |
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| Titel Quelle: | Enthalten in: Orphanet journal of rare diseases |
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| Ort Quelle: | London : BioMed Central, 2006 |
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| Jahr Quelle: | 2021 |
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| Band/Heft Quelle: | 16(2021), Artikel-ID 95, Seite 1-10 |
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| ISSN Quelle: | 1750-1172 |
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| Abstract: | Following the broad application of new analytical methods, more and more pathophysiological processes in previously unknown diseases have been elucidated. The spectrum of clinical presentation of rare inherited metabolic diseases (IMDs) is broad and ranges from single organ involvement to multisystemic diseases. With the aim of overcoming the limited knowledge about the natural course, current diagnostic and therapeutic approaches, the project has established the first unified patient registry for IMDs that fully meets the requirements of the European Infrastructure for Rare Diseases (ERDRI). |
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| DOI: | doi:10.1186/s13023-021-01726-3 |
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| URL: | kostenfrei: Volltext: https://doi.org/10.1186/s13023-021-01726-3 |
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| | DOI: https://doi.org/10.1186/s13023-021-01726-3 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | ERDRI |
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| | European infrastructure for rare diseases |
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| | European reference network for rare hereditary metabolic disorders |
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| | Inherited metabolic diseases |
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| | MetabERN |
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| | U-IMD |
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| | Unified european registry for inherited metabolic diseases |
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| K10plus-PPN: | 1837142408 |
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| Verknüpfungen: | → Zeitschrift |
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| Lokale URL UB: |  Zum Volltext |
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