Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Carlos Viader-Farré"'
Autor:
Miguel Munar-Qués, Teresa Coelho, Paul Moreira, Carlos Viader-Farré, Jaime Masjuan, Maria João Saraiva
Publikováno v:
Amyloid. 14:147-152
We present two families, from Spain and Portugal, with familial amyloid polyneuropathy (FAP) associated with the mutation TTRSer50Arg. This mutation was first described in two Japanese patients from independent families and later in a French-Italian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4279e95ef6f2b7b0862bffcd5518193
https://doi.org/10.1080/13506120701259580
https://doi.org/10.1080/13506120701259580
Autor:
José María Zabay-Becerril, Juana María Mulet-Ferrer, Maria João Saraiva, Miguel Munar-Qués, Carlos Viader-Farré
Publikováno v:
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis. 12(1)
Between 1976 and 2003, we diagnosed 144 patients with familial amyloid polyneuropathy (FAP) in the Balearic Islands (Spain). Analysis of genetic epidemiological data from 102 confirmed patients showed 62% were men. Parental transmission was paternal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e909bbef3fa952934aa33f5e0434e5c4
https://pubmed.ncbi.nlm.nih.gov/16076612
https://pubmed.ncbi.nlm.nih.gov/16076612
Publikováno v:
Amyloid. 18:172-173
The possibility of a patient with familial ATTR amyloidosis receiving a liver from an asymptomatic variant TTR carrier is remote [corrected].However, in 2008, it was reported that this unlikely event occurred in a patient in Portugal. We report our p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bd11bb7dab1c115ef86fed93ed49bcc
https://doi.org/10.3109/13506129.2011.594822
https://doi.org/10.3109/13506129.2011.594822
Autor:
Paul Moreira, Carlos Viader-Farré, Miguel Munar-Qués, J. M. López Domínguez, Maria João Saraiva
Publikováno v:
CIÊNCIAVITAE
Scopus-Elsevier
Scopus-Elsevier
Two Spanish sibs with familial amyloidotic polyneuropathy (FAP) homozygous for the V30M-TTR gene, were diagnosed by DNA and protein analyses. Their clinical picture was very similar to the Majorcan FAP heterozygous patients except for the sensorimoto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ab33d77b29cff48d74318bdf36972c7
https://pubmed.ncbi.nlm.nih.gov/11409034
https://pubmed.ncbi.nlm.nih.gov/11409034
Autor:
Catalina Munar-Bernat, José Francisco Forteza-albertí, Carmen Cifuentes-Luna, Maria João Saraiva, Carlos Viader-Farré, Pedro P. Costa, Miguel Munar-Qués
Publikováno v:
Scopus-Elsevier
CIÊNCIAVITAE
CIÊNCIAVITAE
We analyzed data from 78 Majorcan patients with familial amyloidotic polyneuropathy (FAP): 57 confirmed and 21 non-confirmed. Diagnosis was established in the first group by histopathological study or detection of the biochemical marker in serum, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::645a4a931cf111c5022250b384b69630
http://www.scopus.com/inward/record.url?eid=2-s2.0-0000859840&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0000859840&partnerID=MN8TOARS
