Literature DB >> 1247019

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

W G Ng, G N Donnell, R Koch, W R Bergren.   

Abstract

Deficiency of alpha-L-fucosidase in plasma and leukocytes has been demonstrated in three patients affected with fucosidosis. The measurement of plasma fucosidase activity alone is of little diagnostic value. Several normal individuals were found to have extremely low plasma alpha-L-fucosidase activity, but normal activity in leukocyte preparations. The low plasma enzyme activity exhibited by clinically normal individuals appears to be an inherited characteristic. The plasma enzyme was found to be different from that of leukocytes in terms of electrophoretic mobility.

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Year:  1976        PMID： 1247019      PMCID： PMC1684895     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  18 in total

1.  Isozymes of human alpha-L-fucosidase detectable by starch gel electrophoresis.

Authors:  B M Turner; N G Beratis; V S Turner; K Hirschhorn
Journal:  Clin Chim Acta       Date:  1974-11-20       Impact factor: 3.786

2.  Glycosidases in skin and plasma in Hunter's syndrome. Abnormality of a beta-galactosidase in skin.

Authors:  P A Ockerman; P Köhlin
Journal:  Acta Paediatr Scand       Date:  1968-07

3.  Letter: Genetic heterogeneity in fucosidosis.

Authors:  R Gatti; C Borrone; X Trias; P Durand
Journal:  Lancet       Date:  1973-11-03       Impact factor: 79.321

4.  Biochemical and ultrastructural studies in a case of mucopolysaccharidosis "F" (fucosidosis).

Authors:  H Loeb; M Tondeur; G Jonniaux; S Mockel-Pohl; E Vamos-Hurwitz
Journal:  Helv Paediatr Acta       Date:  1969-10

5.  Fucosidosis.

Authors:  P Durand; C Borrone; G Della Cella
Journal:  J Pediatr       Date:  1969-10       Impact factor: 4.406

6.  Alpha-L-fucosidase and alpha-D-mannosidase activity in the white blood cells in the disease and carrier state of fucosidosis.

Authors:  I Matsuda; S Arashima; M Anakura; Y Oka
Journal:  Clin Chim Acta       Date:  1973-09-28       Impact factor: 3.786

7.  A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant.

Authors:  W G Bergren; G N Donnell
Journal:  Ann Hum Genet       Date:  1973-07       Impact factor: 1.670

8.  Fucosidosis: clinical, biochemical, immunologic, and genetic studies in two new cases.

Authors:  C Borrone; R Gatti; X Trias; P Durand
Journal:  J Pediatr       Date:  1974-05       Impact factor: 4.406

9.  Electrophoretic forms of human liver alpha-L-fucosidase and their relationship to fucosidosis (mucopolysaccharidosis F).

Authors:  J A Alhadeff; A L Miller; D A Wenger; J S O'Brien
Journal:  Clin Chim Acta       Date:  1974-12-17       Impact factor: 3.786

10.  Fucosidosis: deficiency of alpha-L-fucosidase in cultured skin fibroblasts.

Authors:  K Zielke; M L Veath; J S O'Brien
Journal:  J Exp Med       Date:  1972-07-01       Impact factor: 14.307
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  15 in total

1.  alpha-L-fucosidase in human fibroblasts. I. The enzyme activity polymorphism.

Authors:  J G Wauters; K L Stuer; A Van Elsen; P J Willems
Journal:  Biochem Genet       Date:  1992-04       Impact factor: 1.890

2.  An alpha-fucosidase pseudogene on human chromosome 2.

Authors:  B Carritt; H M Welch
Journal:  Hum Genet       Date:  1987-03       Impact factor: 4.132

3.  Variation in alpha-L-fucosidase properties among 28 inbred mouse strains: six strains have high enzyme activity and heat-stabile enzyme with a variant pH-activity curve; twenty-two strains have low activity and heat-labile enzyme.

Authors:  W G Johnson; J L Hong
Journal:  Biochem Genet       Date:  1986-06       Impact factor: 1.890

4.  Relationship between alpha-L-fucosidase deficiency in plasma and alpha-L-fucosidase activity in leukocytes.

Authors:  R Gatti; S Cavalieri; G Romeo
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

Review 5.  Genetic heterogeneity in metachromatic leukodystrophy.

Authors:  H Kihara
Journal:  Am J Hum Genet       Date:  1982-03       Impact factor: 11.025

6.  Five related Lebanese individuals with high plasma lysosomal hydrolases: a new defect in mannose-6-phosphate receptor recognition?

Authors:  D Alexander; G Dudin; F Talj; F Bitar; M Deeb; A Khudr; M Abboud; V M Der Kaloustian
Journal:  Am J Hum Genet       Date:  1984-09       Impact factor: 11.025

7.  In vitro expression of alpha-L-fucosidase activity polymorphism observed in plasma.

Authors:  A F Van Elsen; J G Leroy; J G Wauters; P J Willems; C Buytaert; K Verheyen
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

8.  Segregation analysis of alpha-L-fucosidase activity.

Authors:  L Iselius; J R Playfer; D A Evans
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

9.  Biosynthesis, processing, and extracellular release of alpha-L-fucosidase in lymphoid cell lines of different genetic origins.

Authors:  R A DiCioccio; K S Brown
Journal:  Biochem Genet       Date:  1988-06       Impact factor: 1.890

10.  Apparent hexosaminidase B deficiency in two healthy members of a pedigree.

Authors:  P Hechtman; A Rowlands
Journal:  Am J Hum Genet       Date:  1979-07       Impact factor: 11.025
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