期刊论文详细信息
Colombia Médica | |
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia | |
Carlos Armando Rodriguez2  Harry Pachajoa1  | |
[1] Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras. Universidad Icesi, Cali, Colombia;Profesor Titular, Universidad del Valle | |
关键词: Mucopolysaccharidosis VI; mucopolysaccharidoses; history of medicine; paleopathology; inborn genetic diseases.; | |
DOI : | |
学科分类:医学(综合) | |
来源: Universidad del Valle * Facultad de Salud / Universidad del Valle, Faculty of Health | |
【 摘 要 】
Mucopolysaccharidosis type VI or Maroteaux Lamy syndrome is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B, the clinical features include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism, with intelligence usually normal. We present evidence of the possible existence of Maroteaux Lamy syndrome in pre-Columbian pottery 2000 years ago, in the Colombo Ecuadorian Pacific coast of the Tumaco-Tolita culture.
【 授权许可】
Unknown
【 预 览 】
Files | Size | Format | View |
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RO201911300927688ZK.pdf | 566KB | download |