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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 |
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