Literature DB >> 4128078

Letter: Genetic heterogeneity in fucosidosis.

B G Kousseff, N G Beratis, C Danesino, K Hirschhorn.   

Abstract

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Year:  1973        PMID： 4128078     DOI： 10.1016/s0140-6736(73)93352-7

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  13 in total

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

Authors:  W G Ng; G N Donnell; R Koch; W R Bergren
Journal:  Am J Hum Genet       Date:  1976-01       Impact factor: 11.025

2.  Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis.

Authors:  P J Willems; J K Darby; R A DiCioccio; P Nakashima; C Eng; K A Kretz; L L Cavalli-Sforza; E M Shooter; J S O'Brien
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

Review 3.  Mucopolysaccharidoses and mucolipidoses.

Authors:  F Van Hoof
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

4.  Subunit composition of human liver alpha-L-fucosidase.

Authors:  J A Alhadeff; G L Andrews-Smith
Journal:  Biochem J       Date:  1979-02-01       Impact factor: 3.857

5.  Genetic polymorphism of alpha-L-fucosidase in Brittany (France).

Authors:  I Trinh-Dinh-Khoi; D Glaise; A Le Treut; R Fauchet; Y Godin; J Y Le Gall
Journal:  Hum Genet       Date:  1979-10-02       Impact factor: 4.132

6.  Study on a family with anderson--Fabry's disease and associated familial spastic paraplegia.

Authors:  A M Pierides; G Holti; A L Crombie; D F Roberts; S E Gardiner; A Colling; J Anderson
Journal:  J Med Genet       Date:  1976-12       Impact factor: 6.318

7.  Diagnosis of Anderson-Fabry disease.

Authors:  P J Gosling
Journal:  J R Soc Med       Date:  1982-12       Impact factor: 5.344

8.  Purification and characterization of alpha-L-fucosidase from the liver of a fucosidosis patient.

Authors:  J A Alhadeff; G L Andrews-Smith
Journal:  Biochem J       Date:  1980-04-01       Impact factor: 3.857

9.  Radiographic features of fucosidosis.

Authors:  F A Lee; G N Donnell; J L Gwinn
Journal:  Pediatr Radiol       Date:  1977

10.  Absence of alpha-fucosidase activity in two sisters showing a different phenotype.

Authors:  H Christomanou; D Beyer
Journal:  Eur J Pediatr       Date:  1983-03       Impact factor: 3.183
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