eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | amyloidosis |
| Comorbidity | C0152025|polyneuropathy |
| Sentences | 9 |
| PubMedID- 20840742 | Familial amyloidosis with polyneuropathy (fap, omim +176300) is a fatal autosomal dominant disease caused by mutations in the ttr gene. |
| 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- 26096568 | Purpose: assessment of ocular involvement in transthyretin-related familial amyloidosis with polyneuropathy (fap) in a large cohort of portuguese patients. |
| PubMedID- 25743445 | polyneuropathy associated with ttr amyloidosis is typically characterized by small fiber, sensory-motor neuropathy involving symptoms such as pain, sensory loss, numbness, and motor deficits, including walking difficulties [2]. |
| PubMedID- 25693163 | Familial amyloidotic polyneuropathy (fap) is one of the transthyretin (ttr) amyloidoses characterized by extracellular amyloid deposits and peripheral nerve involvement. |
| PubMedID- 22277512 | Similar clinical recovery was seen in primary systemic al amyloidosis patients with polyneuropathy after high dose melphalan with auto-pbsct. |
| PubMedID- 22941262 | Varied clinical presentations are described in transthyretin (ttr)-familial amyloidosis with polyneuropathy (fap) and light chain amyloid neuropathy. |
| PubMedID- 22928869 | Familial amyloidosis with polyneuropathy associated with ttr ser50arg mutation. |
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