PedAM
Pediatric Disease Annotations & Medicines
| Disease | polyneuropathy |
| Phenotype | C0002726|amyloidosis |
| Sentences | 10 |
| PubMedID- 20840742 | Familial amyloidosis with polyneuropathy (fap, omim +176300) is a fatal autosomal dominant disease caused by mutations in the ttr gene. |
| PubMedID- 22856884 | Purpose: familial amyloidosis with polyneuropathy (fap) sometimes courses with vitreous amyloid. |
| PubMedID- 22941262 | Varied clinical presentations are described in transthyretin (ttr)-familial amyloidosis with polyneuropathy (fap) and light chain amyloid neuropathy. |
| PubMedID- 26096568 | Purpose: assessment of ocular involvement in transthyretin-related familial amyloidosis with polyneuropathy (fap) in a large cohort of portuguese patients. |
| PubMedID- 22620968 | Familial amyloidosis with polyneuropathy (fap) in france have a large genetic heterogeneity with 29 transthyretin (ttr) gene mutations; met30-ttr is the most frequent one (62%); followed by tyr77-ttr (11.8%) and phe77-ttr (6.2%). |
| 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- 25416603 | In ttr-familial amyloidosis with polyneuropathy, major changes have occurred over the last 30 years: better knowledge concerning genetics, phenotypes and epidemiology, and the advent of possible treatments. |
| PubMedID- 22277512 | Similar clinical recovery was seen in primary systemic al amyloidosis patients with polyneuropathy after high dose melphalan with auto-pbsct. |
| PubMedID- 22709469 | Background: cardiac amyloidosis due to familial amyloid polyneuropathy (fap) includes restrictive cardiomyopathy, thickened cardiac walls, conduction disorders and cardiac denervation. |
| PubMedID- 22928869 | Familial amyloidosis with polyneuropathy associated with ttr ser50arg mutation. |
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