Autor(es):
Martins, E. 
; Oliveira, T. ; Bandeira, A.
Data: 2012
Identificador Persistente: http://hdl.handle.net/10400.16/1316
Origem: Repositório Científico do Centro Hospitalar do Porto
Detalhes do Documento
Genes, crianças e pediatras: homocistinúria clássica
Descrição
ABSTRACT Homocystinuria is an autosomal recessive disease due to cystathionine-synthase deficiency, with the gene CBS being located in chromosome 21. In its typical presentation the eye, skeleton, central nervous system, and vascular system are all involved. The patient is normal at birth and in non-treated patients tall stature and ectopia lentis may be the first symptoms, as in the case we present.
ABSTRACT Homocystinuria is an autosomal recessive disease due to cystathionine-synthase deficiency, with the gene CBS being located in chromosome 21. In its typical presentation the eye, skeleton, central nervous system, and vascular system are all involved. The patient is normal at birth and in non-treated patients tall stature and ectopia lentis may be the first symptoms, as in the case we present.
Tipo de Documento
Artigo
Idioma Português
Idioma Português
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