ArTS Archivio della ricerca di Trieste
ArTS è il sistema di gestione integrata dei dati della ricerca adottato dall' Università degli Studi di Trieste
EnglishOBJECTIVES: We aimed to raise awareness among paediatricians and physicians about this often misunderstood condition. METHODS: We discussed the clinical profiles associated with late or wrong diagnosis of mevalonate kinase deficency (MKD) in a single centre case series. RESULTS: We analysed the most common challenges and pitfalls that a clinician might face during the diagnostic process. Five main clinical profiles were characterised. CONCLUSIONS: We propose a new perspective on MKD, suggesting that the presentation of this disease can vary from patient to patient.
| Titolo: | Different presentations of mevalonate kinase deficiency: a case series | |
| Autori: | ||
| Data di pubblicazione: | 2015 | |
| Rivista: | ||
| Abstract: | OBJECTIVES: We aimed to raise awareness among paediatricians and physicians about this often misunderstood condition. METHODS: We discussed the clinical profiles associated with late or wrong diagnosis of mevalonate kinase deficency (MKD) in a single centre case series. RESULTS: We analysed the most common challenges and pitfalls that a clinician might face during the diagnostic process. Five main clinical profiles were characterised. CONCLUSIONS: We propose a new perspective on MKD, suggesting that the presentation of this disease can vary from patient to patient. | |
| Handle: | http://hdl.handle.net/11368/2870972 | |
| URL: | http://www.clinexprheumatol.org/a.asp?IDArchivio=171 | |
| Appare nelle tipologie: | 1.1 Articolo in Rivista |
File in questo prodotto:
| File | Descrizione | Tipologia | Licenza | |
|---|---|---|---|---|
| DE_PIERI_CER_437.pdf | pdf editoriale | Documento in Versione Editoriale | Digital Rights Management non definito | Administrator Richiedi una copia |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.