PedAM
Pediatric Disease Annotations & Medicines
| Disease | hereditary amyloidosis |
| Phenotype | C0002726|amyloidosis |
| Sentences | 2 |
| PubMedID- 26199771 | To date, thirteen amyloidogenic mutations have been reported in the fibrinogen alpha-chain gene (fga) (http://amyloidosismutations.com/mut-afib.php), accounting for 8% of hereditary amyloidosis cases [7]. |
| PubMedID- 22495291 | Heavy-chain amyloidosis and many forms of hereditary amyloidosis are particularly difficult to type on routine renal biopsy studies.5, 6 we have recently reported on the technique of laser microdissection (lmd) and tandem mass spectrometry (ms)–based proteomic analysis as a sensitive and specific tool for the diagnosis of amyloidosis.7, 8 in this report, we describe in detail the lmd/ms results of 127 cases of renal amyloidosis performed over a 2-year period (2008–2010). |
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