Fabry's disease in a female carrier with bilateral thalamic infarcts: a case report and a family study
An unusual case of a young woman, heterozygote for Fabry gene is reported, who presented bilateral thalamic infarcts due to occlusions of central nervous system vessels. Three other members of her family were studied. Fabry's disease (angiokeratoma corporis diffusum) is included among the rare causes of ischemic stroke in young adults.
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Associação Paulista de Medicina - APM
1994
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oai:scielo:S1516-318019940004000072009-07-03Fabry's disease in a female carrier with bilateral thalamic infarcts: a case report and a family studyCastro,Luiz Henrique MartinsMonteiro,Mario Luiz RibeiroBarbosa,Egberto ReisScaff,MilbertoCanelas,Horacio Martins Fabry's disease thalamic infarction stroke in young adults An unusual case of a young woman, heterozygote for Fabry gene is reported, who presented bilateral thalamic infarcts due to occlusions of central nervous system vessels. Three other members of her family were studied. Fabry's disease (angiokeratoma corporis diffusum) is included among the rare causes of ischemic stroke in young adults.info:eu-repo/semantics/openAccessAssociação Paulista de Medicina - APMSao Paulo Medical Journal v.112 n.4 19941994-12-01info:eu-repo/semantics/reporttext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801994000400007en10.1590/S1516-31801994000400007 |
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revista |
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| language |
English |
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| author |
Castro,Luiz Henrique Martins Monteiro,Mario Luiz Ribeiro Barbosa,Egberto Reis Scaff,Milberto Canelas,Horacio Martins |
| spellingShingle |
Castro,Luiz Henrique Martins Monteiro,Mario Luiz Ribeiro Barbosa,Egberto Reis Scaff,Milberto Canelas,Horacio Martins Fabry's disease in a female carrier with bilateral thalamic infarcts: a case report and a family study |
| author_facet |
Castro,Luiz Henrique Martins Monteiro,Mario Luiz Ribeiro Barbosa,Egberto Reis Scaff,Milberto Canelas,Horacio Martins |
| author_sort |
Castro,Luiz Henrique Martins |
| title |
Fabry's disease in a female carrier with bilateral thalamic infarcts: a case report and a family study |
| title_short |
Fabry's disease in a female carrier with bilateral thalamic infarcts: a case report and a family study |
| title_full |
Fabry's disease in a female carrier with bilateral thalamic infarcts: a case report and a family study |
| title_fullStr |
Fabry's disease in a female carrier with bilateral thalamic infarcts: a case report and a family study |
| title_full_unstemmed |
Fabry's disease in a female carrier with bilateral thalamic infarcts: a case report and a family study |
| title_sort |
fabry's disease in a female carrier with bilateral thalamic infarcts: a case report and a family study |
| description |
An unusual case of a young woman, heterozygote for Fabry gene is reported, who presented bilateral thalamic infarcts due to occlusions of central nervous system vessels. Three other members of her family were studied. Fabry's disease (angiokeratoma corporis diffusum) is included among the rare causes of ischemic stroke in young adults. |
| publisher |
Associação Paulista de Medicina - APM |
| publishDate |
1994 |
| url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801994000400007 |
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| _version_ |
1756421404728754176 |