Author(s):
Martins, E. 
; Oliveira, T. ; Bandeira, A.
Date: 2012
Persistent ID: http://hdl.handle.net/10400.16/1316
Origin: Repositório Científico do Centro Hospitalar do Porto
Document details
Genes, crianças e pediatras: homocistinúria clássica
Description
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.
Document Type
Article
Language Portuguese
Language Portuguese
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