| Naslov: | Mevalonate kinase deficiency : an updated clinical overview and revision of the SHARE recommendations |
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| Avtorji: | ID Lengvári, Lilla (Avtor)
ID Takács, Kata (Avtor)
ID Lengyel, Anna (Avtor)
ID Pálinkás, Annamária (Avtor)
ID Wouters, Carine (Avtor)
ID Kone-Paut, Isabelle (Avtor)
ID Kuemmerle-Deschner, Jasmin B (Avtor)
ID Jeyaratnam, Jerold (Avtor)
ID Anton, Jordi (Avtor)
ID Lachmann, Helen Jane (Avtor)
ID Toplak, Nataša (Avtor), et al. |
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| Datoteke: |  PDF - Predstavitvena datoteka, prenos (396,78 KB)
MD5: 53D6C240F87460F0F157DC50233EE8DE
 URL - Izvorni URL, za dostop obiščite https://doi.org/10.3389/fimmu.2024.1466844
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| Jezik: | Angleški jezik |
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| Tipologija: | 1.02 - Pregledni znanstveni članek |
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| Organizacija: |  UKC LJ - Univerzitetni klinični center Ljubljana
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| Povzetek: | Mevalonate kinase deficiency (MKD), a rare auto-inflammatory disorder, arises from mutations in the MVK gene, disrupting isoprenoid biosynthesis, and affecting cellular processes. This comprehensive review provides an updated perspective on MKD, including its aetiology, pathogenesis, diagnostic modalities, and therapeutic strategies. Based on recent research and clinical advances, our objective is to bridge the knowledge gaps in the 2015 SHARE guidelines. By describing molecular mechanisms, diagnostic dilemmas, and emerging therapies, this article should serve as a resource for clinicians and researchers, promoting a deeper understanding of MKD and guiding optimal patient care. |
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| Ključne besede: | mevalonate kinase deficiency, diagnosis, genetics, treatment, guidelines |
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| Status publikacije: | Objavljeno |
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| Verzija publikacije: | Objavljena publikacija |
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| Leto izida: | 2024 |
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| Št. strani: | str. 1-15 |
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| Številčenje: | Vol. 15, [article no.] ǂ1466844 |
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| PID: | 20.500.12556/DiRROS-27843  |
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| UDK: | 616-097 |
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| ISSN pri članku: | 1664-3224 |
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| DOI: | 10.3389/fimmu.2024.1466844 |
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| COBISS.SI-ID: | 227695107 |
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| Opomba: | Nasl. z nasl. zaslona;
Opis vira z dne 28. 2. 2025;
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| Datum objave v DiRROS: | 26.02.2026 |
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| Število ogledov: | 114 |
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| Število prenosov: | 45 |
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| Metapodatki: |    |
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