Mucopolisacaridosis tipo IH (síndrome de Hurler). Primeros Casos en Colombia
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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. DOI: https://doi.org/10.1089/hum.1992.3.4-371
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. DOI: https://doi.org/10.1073/pnas.91.26.12937
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. DOI: https://doi.org/10.1136/jcp.29.2.111
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. DOI: https://doi.org/10.1016/0009-9120(90)90561-8
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 DOI: https://doi.org/10.1042/bj3040043
Anson DS, Occhiodoro T. Transcriptional activity of the CD45 gene prometer in retroviral vector construcs. Biochem Biophys Acta 1994; 1219: 81-8 DOI: https://doi.org/10.1016/0167-4781(94)90249-6
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 DOI: https://doi.org/10.1002/ajmg.1320470732
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. DOI: https://doi.org/10.1247/csf.17.123
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