Literature DB >> 25100895

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia.

Harry Pachajoa1, Carlos Armando Rodriguez2.   

Abstract

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.

Entities:  

Keywords:  Mucopolysaccharidosis VI; history of medicine; inborn genetic diseases; mucopolysaccharidoses; paleopathology

Mesh:

Year:  2014        PMID: 25100895      PMCID: PMC4123588     

Source DB:  PubMed          Journal:  Colomb Med (Cali)        ISSN: 0120-8322


  7 in total

1.  [A NEW DYSOSTOSIS WITH URINARY ELIMINATION OF CHONDROITIN SULFATE B].

Authors:  P MAROTEAUX; B LEVEQUE; J MARIE; M LAMY
Journal:  Presse Med       Date:  1963-09-25       Impact factor: 1.228

2.  Possible case of sirenomelia in the Tumaco-Tolita pottery pre-Columbian culture, 2000 years before the epidemic focus of sirenomelia in Cali-Colombia.

Authors:  Harry Pachajoa; Carlos Rodriguez
Journal:  Am J Med Genet A       Date:  2011-08-03       Impact factor: 2.802

3.  Down's Syndrome in pre-Hispanic pottery of the Colombia- Ecuador Pacific coast (2000 years ago).

Authors:  H Pachajoa; C A Rodríguez
Journal:  Neurologia       Date:  2011-07-27       Impact factor: 3.109

4.  Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI.

Authors:  A C M M Azevedo; I V Schwartz; L Kalakun; S Brustolin; M G Burin; A P C Beheregaray; S Leistner; C Giugliani; M Rosa; P Barrios; D Marinho; P Esteves; E Valadares; R Boy; D Horovitz; P Mabe; L C S da Silva; I C N de Souza; M Ribeiro; A M Martins; D Palhares; C A Kim; R Giugliani
Journal:  Clin Genet       Date:  2004-09       Impact factor: 4.438

Review 5.  Incidence of the mucopolysaccharidoses in Western Australia.

Authors:  John Nelson; June Crowhurst; Bill Carey; Lawrence Greed
Journal:  Am J Med Genet A       Date:  2003-12-15       Impact factor: 2.802

6.  Achondroplasia among ancient populations of mesoamerica and South America: Iconographic and Archaeological Evidence.

Authors:  Carlos A Rodríguez; Carolina Isaza; Harry Pachajoa
Journal:  Colomb Med (Cali)       Date:  2012-09-30

7.  Ethical and economic considerations of rare diseases in ethnic minorities: the case of mucopolysaccharidosis VI in Colombia.

Authors:  Diego Rosselli; Juan-David Rueda; Martha Solano
Journal:  J Med Ethics       Date:  2012-05-01       Impact factor: 2.903

  7 in total
  1 in total

1.  Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).

Authors:  Gustavo Adolfo Giraldo; Paola Ayala-Ramírez; Juan Carlos Prieto; Reggie García-Robles; Johanna Carolina Acosta
Journal:  Meta Gene       Date:  2015-12-23
  1 in total

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