Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis.
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Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosisA drastic reduction in the life span of cystatin C L68Q carriers due to life-style changes during the last two centuries.A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected.Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate.Anticipation in Swedish families with bipolar affective disorder.Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study.A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathyA possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers.Guideline of transthyretin-related hereditary amyloidosis for clinicians.Transmission of amyloidosis in offspring of mice with AApoAII amyloidosis.Genetic epidemiology of familial amyloid polyneuropathy in the Balearic Islands (Spain).Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population.Transthyretin V122I (pV142I)* cardiac amyloidosis: an age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans.Transthyretin familial amyloid polyneuropathy (TTR-FAP) in Mallorca: a comparison between late- and early-onset disease.Regional differences and similarities of FAP in Sweden.Mycobacterium avium lymphadenopathy among children, Sweden.Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M.Familial amyloid polyneuropathy with genetic anticipation associated to a gly47glu transthyretin variant in an Italian kindred.Electrophysiological features of familial amyloid polyneuropathy in endemic area.Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features.Severe amyloid deposition in mammary glands of familial amyloid polyneuropathy patients.Epidemiological, clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus.Amyloidosis due to TTR mutations in Mexico with 4 distincts genotypes in the index cases.Myocardial hypertrophy and function are related to age at onset in familial amyloidotic polyneuropathyDifficulties in clinical diagnosis and prediction of outcome in patients with the transthyretin Met 30 mutation: Report of two casesWorld-wide survey of liver transplantation in patients with familial amyloidotic polyneuropathyA novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathyDiscordant symptoms in monozygotic twins with familial amyloidotic polyneuropathy (FAP) (TTR Met 30)L-threo-DOPS treatment of orthostatic hypotension in Swedish patients with familial amyloidotic polyneuropathy (TTR-met30)
P2860
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P2860
Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis.
description
1993 nî lūn-bûn
@nan
1993 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis.
@ast
Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis.
@en
type
label
Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis.
@ast
Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis.
@en
prefLabel
Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis.
@ast
Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis.
@en
P2093
P356
P1476
Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis.
@en
P2093
Andersson R
Danielsson M
Holmgren G
Sandgren O
P2860
P304
P356
10.1136/JMG.30.5.388
P407
P577
1993-05-01T00:00:00Z