Mucopolysaccharidosis type iv: report of 5 cases of morquio syndrome

Mucopolysaccharidosis type IV or Morquio Syndrome, is a lysosomal deposit disease, of autosomal recessive inheritance with a similar incidence in men and women. The clinical picture is of variable expressiveness, its phenotype is characterized by skeletal dysplasia that includes neck and short trunk...

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Autores:

Cadena Arteaga, Jorge Alejandro
Lasso Andrade, Fabricio Andres
Achicanoy Puchana, Denny Marcela
Achicanoy Puchana, Diana Fernanda
Caicedo Morillo, Gina Natalia
Medina-Bravo, Paola Andrea
Juez Neira, William Fernando
Vanegas Bastidas, Cristian Ricardo
Montoya Ríos, Diana Carolina
Vasquez Correa, Karen Julieth
Suárez Cuéllar, Laura Catalina
Osorio Segura, Lady Johana

Tipo de recurso:

Article of journal

Fecha de publicación:

2022

Institución:

Universidad El Bosque

Repositorio:

Repositorio U. El Bosque

Idioma:

eng

OAI Identifier:

oai:repositorio.unbosque.edu.co:20.500.12495/6777

Acceso en línea:

http://hdl.handle.net/20.500.12495/6777
https://doi.org/10.1016/j.radcr.2021.11.012

Palabra clave:

Síndrome de morquio
Mucopolisacaridosis
Baja estatura
Glicosaminoglicanos
Morquio syndrome
Mucopolysaccharidosis
Short stature
Glycosaminoglycans

Rights

openAccess

License

Attribution-NonCommercial-NoDerivatives 4.0 Internacional