CINECA IRIS Institutional Research Information System
IRIS è la soluzione IT che facilita la raccolta e la gestione dei dati relativi alle attività e ai prodotti della ricerca. Fornisce a ricercatori, amministratori e valutatori gli strumenti per monitorare i risultati della ricerca, aumentarne la visibilità e allocare in modo efficace le risorse disponibili.
EnglishBackground Mutations in COL4A1 are responsible for a spectrum of clinical phenotypes characterized by neurological, ocular, and renal involvement. Neurological features are the most prominent but as such are rather nonspecific.Case Presentation Here, we report three new cases that, like five patients we previously described, show the novel common finding of raised creatine kinase (CK) concentration.Conclusion Raised CK concentration, in addition to intracranial calcification, is to be considered another useful pointer to a final diagnosis of COL4A1-related disease.
Scheda prodotto non validato
Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo
| Titolo: | COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers. | |
| Autori: | ||
| Data di pubblicazione: | 2012 | |
| Rivista: | ||
| Abstract: | Background Mutations in COL4A1 are responsible for a spectrum of clinical phenotypes characterized by neurological, ocular, and renal involvement. Neurological features are the most prominent but as such are rather nonspecific.Case Presentation Here, we report three new cases that, like five patients we previously described, show the novel common finding of raised creatine kinase (CK) concentration.Conclusion Raised CK concentration, in addition to intracranial calcification, is to be considered another useful pointer to a final diagnosis of COL4A1-related disease. | |
| Handle: | http://hdl.handle.net/11571/571109 | |
| Appare nelle tipologie: | 1.1 Articolo in rivista |
File in questo prodotto:
Copyright © 2021