期刊名称：Nascer e Crescer - Revista do Hospital de Crianças Maria Pia
印刷版ISSN：0872-0754
出版年度：2012
卷号：21
期号：1
页码：63-64
出版社：Hospital de Crianças Maria Pia - Centro Hospitalar do Porto
摘要：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.
其他摘要：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.
