Mucopolisacaridosis tipo VI (síndrome Maroteaux-Lamy) en la cultura precolombina de Colombia
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,...
- Autores:
-
Pachajoa Londoño, Harry Mauricio
Rodriguez, Carlos Armando
- Tipo de recurso:
- Article of investigation
- Fecha de publicación:
- 2014
- Institución:
- Universidad ICESI
- Repositorio:
- Repositorio ICESI
- Idioma:
- spa
- OAI Identifier:
- oai:repository.icesi.edu.co:10906/81901
- Acceso en línea:
- http://hdl.handle.net/10906/81901
https://doi.org/10.25100/cm.v45i2.1441
- Palabra clave:
- Enfermedades genéticas
Ciencias socio biomédicas
Medical sciences
Mucopolisacaridosis VI
Historia de la medicina
Paleopatología
Enfermedades genéticas congénitas
- Rights
- openAccess
- License
- https://creativecommons.org/licenses/by-nc-nd/4.0/
| Summary: | 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. |
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