A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected.
about
Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAPA pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathyCorino de Andrade disease: mechanisms and impact on reproduction.Involvement of Macrophages in the Pathogenesis of Familial Amyloid Polyneuropathy and Efficacy of Human iPS Cell-Derived Macrophages in Its TreatmentGenetic epidemiology of familial amyloid polyneuropathy in the Balearic Islands (Spain).Ophthalmological manifestations in hereditary transthyretin (ATTR V30M) carriers: a review of 513 casesSurvival After Transplantation in Patients With Mutations Other Than Val30Met: Extracts From the FAP World Transplant Registry.Quantitative sensation and autonomic test abnormalities in transthyretin amyloidosis polyneuropathy.Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation.Late-onset familial amyloid polyneuropathy (FAP) Val30Met without family history.Rapidly progressive amyloid polyneuropathy associated with a novel variant transthyretin serine 25.Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis.Familial amyloid polyneuropathy with genetic anticipation associated to a gly47glu transthyretin variant in an Italian kindred.Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden.Life paths of patients with transthyretin-related familial amyloid polyneuropathy Val30Met: a descriptive study.Mice transgenic for human TTR have the same frequency of renal TTR deposition whether maintained in conventional or specific pathogen free environments.Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features.A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal.Vitreous amyloidosis in two large mainland Chinese kindreds resulting from transthyretin variant Lys35Thr and Leu55Arg.Clinical features of TTR-FAP in Portugal.Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies?Most recent common ancestor ofTTRVal30Met mutation in Italian population and its potential role in genotype-phenotype correlation
P2860
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P2860
A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected.
description
1994 nî lūn-bûn
@nan
1994 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
A study of 159 Portuguese pati ...... parents were both unaffected.
@ast
A study of 159 Portuguese pati ...... parents were both unaffected.
@en
type
label
A study of 159 Portuguese pati ...... parents were both unaffected.
@ast
A study of 159 Portuguese pati ...... parents were both unaffected.
@en
prefLabel
A study of 159 Portuguese pati ...... parents were both unaffected.
@ast
A study of 159 Portuguese pati ...... parents were both unaffected.
@en
P2093
P2860
P356
P1476
A study of 159 Portuguese pati ...... parents were both unaffected.
@en
P2093
P2860
P304
P356
10.1136/JMG.31.4.293
P407
P577
1994-04-01T00:00:00Z