eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | al amyloidosis |
| Comorbidity | C0152025|polyneuropathy |
| Sentences | 9 |
| PubMedID- 22941262 | Varied clinical presentations are described in transthyretin (ttr)-familial amyloidosis with polyneuropathy (fap) and light chain amyloid neuropathy. |
| PubMedID- 22620968 | Regional difference and similarity of familial amyloidosis with polyneuropathy in france. |
| PubMedID- 22856884 | Purpose: familial amyloidosis with polyneuropathy (fap) sometimes courses with vitreous amyloid. |
| PubMedID- 22277512 | Similar clinical recovery was seen in primary systemic al amyloidosis patients with polyneuropathy after high dose melphalan with auto-pbsct. |
| PubMedID- 24363850 | Systemic amyloidosis has subtypes of light chain (al) amyloidosis, amyloid a (aa) amyloidosis, dialysis-related amyloidosis, hereditary amyloidosis such as familial amyloidosis with polyneuropathy, cardiac or renal amyloidosis, and organ specific amyloidosis such as alzheimer disease, cardiac, laryngeal, or pulmonary amyloidosis [1]. |
| PubMedID- 24970351 | Isolated autonomic failure without evident somatic polyneuropathy in al amyloidosis. |
| PubMedID- 20840742 | Background: familial amyloidosis with polyneuropathy (fap) is an autosomal dominant disease caused by transthyretin (ttr) mutations, of which v30m (ttr c.148g > a, p.val50met, "val30met") is the most common. |
| PubMedID- 26096568 | Purpose: assessment of ocular involvement in transthyretin-related familial amyloidosis with polyneuropathy (fap) in a large cohort of portuguese patients. |
| PubMedID- 22928869 | Familial amyloidosis with polyneuropathy associated with ttr ser50arg mutation. |
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