Fucosidosis: Deficiency of Alpha-L-fucosidase in Cultured Skin Fibroblasts

Overview

Journal J Exp Med

Specialties Allergy & Immunology
General Medicine

Date 1972 Jul 1

PMID 4624449

Citations 7

Authors

K ZIELKE

M L Veath

J S OBrien

Affiliations

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Citing Articles

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.

Ng B, Rosenfeld J, Emrick L, Jain M, Burrage L, Lee B Am J Hum Genet. 2018; 103(6):1030-1037.

PMID: 30503518 PMC: 6288200. DOI: 10.1016/j.ajhg.2018.10.021.

Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.

Ng B, Xu G, Chandy N, Steyermark J, Shinde D, Radtke K Am J Hum Genet. 2018; 102(1):188-195.

PMID: 29304374 PMC: 5777984. DOI: 10.1016/j.ajhg.2017.12.009.

Lipid and lysosomal enzymes in human fibroblasts cultured with perhexiline maleate.

Albouz S, Boutry J, Dubois G, Bourdon R, Hauw J, Baumann N Naunyn Schmiedebergs Arch Pharmacol. 1981; 317(2):173-7.

PMID: 7300921 DOI: 10.1007/BF00500076.

Mucopolysaccharidoses and mucolipidoses.

Van Hoof F J Clin Pathol Suppl (R Coll Pathol). 1974; 8:64-93.

PMID: 4220223 PMC: 1347205.

Biochemical and genetic studies of plasma and leukocyte alpha-L-fucosidase.

Ng W, Donnell G, Koch R, BERGREN W Am J Hum Genet. 1976; 28(1):42-50.

PMID: 1247019 PMC: 1684895.

References

Van Hoof F, HERS H . Mucopolysaccharidosis by absence of alpha-fucosidase. Lancet. 1968; 1(7553):1198. DOI: 10.1016/s0140-6736(68)91895-3. View

Durand P, BORRONE C, DELLA CELLA G . Fucosidosis. J Pediatr. 1969; 75(4):665-74. DOI: 10.1016/s0022-3476(69)80464-6. View

LOEB H, Tondeur M, Jonniaux G . Biochemical and ultrastructural studies in a case of mucopolysaccharidosis "F" (fucosidosis). Helv Paediatr Acta. 1969; 24(5):519-37. View

ZIELKE K, Okada S, OBrien J . Fucosidosis: diagnosis by serum assay of alpha-L-fucosidase. J Lab Clin Med. 1972; 79(1):164-9. View

Ho M, Seck J, Schmidt D, Veath M, Johnson W, Brady R . Adult Gaucher's disease: kindred studies and demonstration of a deficiency of acid beta-glucosidase in cultured fibroblasts. Am J Hum Genet. 1972; 24(1):37-45. PMC: 1762143. View