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  1. Home /
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  3. Vol 26 No 3 (1995) /
  4. Case Report

Mucopolisacaridosis tipo IH (síndrome de Hurler). Primeros Casos en Colombia

  • Abstract
  • Author Biographies
  • References

Abstract

Authors

  • Olga Y Echeverry Universidad del Valle
  • Luis A Barrera Universidad de los Andes
  • Martha C Bermudez Universidad de los Andes
  • Hugo Hernando Vega Universidad de los Andes

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Author Biographies


, Universidad del Valle
Centro de Investigaciones en Bioquímica, Universidad de los Andes, Bogotá, Colombia

, Universidad de los Andes
Centro de Investigaciones en Bioquímica, Universidad de los Andes, Bogotá, Colombia

, Universidad de los Andes
Centro de Investigaciones en Bioquímica, Universidad de los Andes, Bogotá, Colombia

, Universidad de los Andes
Centro de Investigaciones en Bioquímica. Universidad de los Andes, Bogotá, Colombia.

References

Scriver C, Beaudet A, Sly W, et al. The metabolic basis of inherited disease. 6th ed., New York, McGraw-Hill, 1989, pp. 1565-87.

Cohn R, Roth K. Metabolic disease. Philadelphia, WB Saunders Co, 1983, pp. 340-50.

Méndez HM, Pinto LI, Paskulin GA, et al. Is there a relationship between in born errors of metabolism and extensive Mongolian spots? Am J Genet 1993; 465-57.

Scott HS, Ashton LJ, Eyre HJ, et al. Chromosomal localization of human alpha-L-iduronidase gene (IDUA) to 4p 16.3. Am J Hum Genet 1990; 47: 802-07.

Bach G, Moscowitz SM, Tieu PT, et al. Molecular analysis of Hurler syndrome in Druze and Muslin Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area. Am J Genet 1993; 53: 330-38.

Anson DS, Bielicki J, Hopwood JJ. Correction of mucopolysaccharidoses type I fibroblast by retroviral mediated transfer of the human alpha-L-iduronidase gene. Hum Genet 1992, 3: 371-79.

Shull RM, Kakkis ED, MecEntee MF, et al. Enzyme replacement in a canine model of Hurler syndrome. Proc Natl Acad Sci USA 1994; 91: 12937-41.

Hopwood JJ, Morris P. the mucopolysaccharidoses: diagnosis, molecular genetics and treatment. Mol Biol Med 1990; 7: 381-404.

Pennock CA. A review and selection of simple laboratory methods used for the study of glycosaminoglycan excretion and the diagnosis of the mucopolysaccharidoses. J Clin Pathol 1976; 29: 111-23.

Barrera L, Tonguino T, Uribe A, et al. Errores innatos del metabolismo. Aproximación mediante el laboratorio (en impresión).

Dembure PP. Selective urinary screening for mucopolysaccharidoses. Clin Biochem 1993, 23: 91-5.

Thomas G, Howell R. Select screening tests for genetc metabolic diseases. Year Book Medical Publishers Inc. 1973; 36-42.

Shapira E, Blitzer M, Miller J, et al. Biochemical genetics. New York, Oxford University Press, 1989, pp. 4-17, 36.

Resnick JM, Krivit W, Snover DC, et al. Pathology of the liver in mucopolysaccharidoses: light and electron microscopic assesment before and after bone marrow transplantation. Bone Merrow Transplant 1992; 10: 273-80.

Unger EG, Durrant J, Anson DS, et al. Recombinante a-L-Iduronidase: characterization of the purified enzyme and corretion of mucopolysaccharidosis type I fibroblasts. Biochem J 1994; 304: 43-9

Anson DS, Occhiodoro T. Transcriptional activity of the CD45 gene prometer in retroviral vector construcs. Biochem Biophys Acta 1994; 1219: 81-8

McDowell GA, Cowan TM, Blitzer MG, et al. Intrafamilial variability in Hurler syndrome and Sanfilippo syndrome type A: Implications for evaluation of new therapies. Am J Med Genet 1993; 47: 1092-95

Okamoto H, Sukegawa K, Tomatsu S, et al. Optimization of electroporation for transfection of human fibroblast cell lines with origin-defective SV 40 DNA: development of human transformed fibroblast cell lines with mucopolysaccharidoses (I-VII). Cell Struct Funct 1992; 17: 123-28.

Published
2014-11-04
Submitted
2014-10-31
| 502 |
How to Cite
Echeverry, O., Barrera, L., Bermudez, M., & Vega, H. (2014). Mucopolisacaridosis tipo IH (síndrome de Hurler). Primeros Casos en Colombia. Colombia Médica, 26(3), 89-92. Retrieved from https://colombiamedica.univalle.edu.co/colombiamedica311/index.php/comedica/article/view/1751
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Issue
Vol 26 No 3 (1995)
Section
Case Report

The copy rights of the articles published in Colombia Médica belong to the Universidad del Valle. The contents of the articles that appear in the Journal are exclusively the responsibility of the authors and do not necessarily reflect the opinions of the Editorial Committee of the Journal. It is allowed to reproduce the material published in Colombia Médica without prior authorization for non-commercial use

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