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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1976 Jan;28(1):42–50.

Biochemical and genetic studies of plasma and leukocyte α-L-fucosidase

Won G Ng, George N Donnell, Richard Koch, William R Bergren
PMCID: PMC1684895  PMID: 1247019

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Alhadeff J. A., Miller A. L., Wenger D. A., O'Brien J. S. Electrophoretic forms of human liver alpha-L-fucosidase and their relationship to fucosidosis (mucopolysaccharidosis F). Clin Chim Acta. 1974 Dec 17;57(3):307–313. doi: 10.1016/0009-8981(74)90412-4. [DOI] [PubMed] [Google Scholar]
  2. Bergren W. G., Donnell G. N. A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant. Ann Hum Genet. 1973 Jul;37(1):1–8. doi: 10.1111/j.1469-1809.1973.tb01808.x. [DOI] [PubMed] [Google Scholar]
  3. Borrone C., Gatti R., Trias X., Durand P. Fucosidosis: clinical, biochemical, immunologic, and genetic studies in two new cases. J Pediatr. 1974 May;84(5):727–730. doi: 10.1016/s0022-3476(74)80019-3. [DOI] [PubMed] [Google Scholar]
  4. Durand P., Borrone C., Della Cella G. Fucosidosis. J Pediatr. 1969 Oct;75(4):665–674. doi: 10.1016/s0022-3476(69)80464-6. [DOI] [PubMed] [Google Scholar]
  5. Durand P., Borrone C. Fucosidosis and mannosidosis, glycoprotein and glycosylceramide storage diseases. Helv Paediatr Acta. 1971 Apr;26(1):19–27. [PubMed] [Google Scholar]
  6. Gatti R., Borrone C., Trias X., Durand P. Letter: Genetic heterogeneity in fucosidosis. Lancet. 1973 Nov 3;302(7836):1024–1024. doi: 10.1016/s0140-6736(73)91112-4. [DOI] [PubMed] [Google Scholar]
  7. Kousseff B. G., Beratis N. G., Danesino C., Hirschhorn K. Letter: Genetic heterogeneity in fucosidosis. Lancet. 1973 Dec 15;2(7842):1387–1388. doi: 10.1016/s0140-6736(73)93352-7. [DOI] [PubMed] [Google Scholar]
  8. LOWRY O. H., ROSEBROUGH N. J., FARR A. L., RANDALL R. J. Protein measurement with the Folin phenol reagent. J Biol Chem. 1951 Nov;193(1):265–275. [PubMed] [Google Scholar]
  9. Loeb H., Tondeur M., Jonniaux G., Mockel-Pohl S., Vamos-Hurwitz E. Biochemical and ultrastructural studies in a case of mucopolysaccharidosis "F" (fucosidosis). Helv Paediatr Acta. 1969 Oct;24(5):519–537. [PubMed] [Google Scholar]
  10. Matsuda I., Arashima S., Anakura M., Oka Y. Alpha-L-fucosidase and alpha-D-mannosidase activity in the white blood cells in the disease and carrier state of fucosidosis. Clin Chim Acta. 1973 Sep 28;48(1):9–13. doi: 10.1016/0009-8981(73)90210-6. [DOI] [PubMed] [Google Scholar]
  11. O'Brien J. S., Okada S., Chen A., Fillerup D. L. Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay. N Engl J Med. 1970 Jul 2;283(1):15–20. doi: 10.1056/NEJM197007022830104. [DOI] [PubMed] [Google Scholar]
  12. Ockerman P. A., Köhlin P. Glycosidases in skin and plasma in Hunter's syndrome. Abnormality of a beta-galactosidase in skin. Acta Paediatr Scand. 1968 Jul;57(4):281–284. doi: 10.1111/j.1651-2227.1968.tb07292.x. [DOI] [PubMed] [Google Scholar]
  13. Patel V., Watanabe I., Zeman W. Deficiency of alpha-L-fucosidase. Science. 1972 Apr 28;176(4033):426–427. doi: 10.1126/science.176.4033.426. [DOI] [PubMed] [Google Scholar]
  14. Turner B. M., Beratis N. G., Turner V. S., Hirschhorn K. Isozymes of human alpha-L-fucosidase detectable by starch gel electrophoresis. Clin Chim Acta. 1974 Nov 20;57(1):29–35. doi: 10.1016/0009-8981(74)90174-0. [DOI] [PubMed] [Google Scholar]
  15. Van Hoof F., Hers H. G. Mucopolysaccharidosis by absence of alpha-fucosidase. Lancet. 1968 Jun 1;1(7553):1198–1198. doi: 10.1016/s0140-6736(68)91895-3. [DOI] [PubMed] [Google Scholar]
  16. Van Hoof F., Hers H. G. Mucopolysaccharidosis by absence of alpha-fucosidase. Lancet. 1968 Jun 1;1(7553):1198–1198. doi: 10.1016/s0140-6736(68)91895-3. [DOI] [PubMed] [Google Scholar]
  17. Wood S. A sensitive fluorometric assay for alpha-KL-fucosidase. Clin Chim Acta. 1975 Feb 8;58(3):251–256. doi: 10.1016/0009-8981(75)90444-1. [DOI] [PubMed] [Google Scholar]
  18. Zielke K., Okada S., O'Brien J. S. Fucosidosis: diagnosis by serum assay of alpha-L-fucosidase. J Lab Clin Med. 1972 Jan;79(1):164–169. [PubMed] [Google Scholar]
  19. Zielke K., Veath M. L., O'Brien J. S. Fucosidosis: deficiency of alpha-L-fucosidase in cultured skin fibroblasts. J Exp Med. 1972 Jul 1;136(1):197–199. doi: 10.1084/jem.136.1.197. [DOI] [PMC free article] [PubMed] [Google Scholar]

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