Literature DB >> 6766901

The genetic defect in the various types of human beta-galactosidase deficiency.

H L Hoeksema, J De Wit, A Westerveld.   

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Year:  1980        PMID： 6766901     DOI： 10.1007/bf00273505

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  26 in total

Review 1.  Sialidosis: a review of human neuraminidase deficiency.

Authors:  J A Lowden; J S O'Brien
Journal:  Am J Hum Genet       Date:  1979-01       Impact factor: 11.025

2.  Macular cherry-red spots and myoclonus with dementia: coexistent neuraminidase and beta-galactosidase deficiencies.

Authors:  D A Wenger; T J Tarby; C Wharton
Journal:  Biochem Biophys Res Commun       Date:  1978-05-30       Impact factor: 3.575

3.  GM1-gangliosidosis without chondrodystrophy or visceromegaly. B-galactosidase deficiency with gangliosidosis and the excessive excretion of a keratan sulfate.

Authors:  L S Wolfe; J Callahan; J S Fawcett; F Andermann; C R Scriver
Journal:  Neurology       Date:  1970-01       Impact factor: 9.910

4.  In situ detection of mycoplasma contamination in cell cultures by fluorescent Hoechst 33258 stain.

Authors:  T R Chen
Journal:  Exp Cell Res       Date:  1977-02       Impact factor: 3.905

5.  Enzymological properties and immunological characterization of alpha-galactosidase isoenzymes from normal and Fabry human liver.

Authors:  A W Schram; M N Hamers; B Brouwer-Kelder; W E Donker-Koopman; J M Tager
Journal:  Biochim Biophys Acta       Date:  1977-05-12

6.  The use of quantiatative cytochemical analyses in rapid prenatal detection and somatic cell genetic studies of metabolic diseases.

Authors:  H Galjaard; A Hoogeveen; W Keijzer; E De Wit-Verbeek; C Vlek-Noot
Journal:  Histochem J       Date:  1974-09

7.  Characterization of purified human liver acid beta-D-galactosidases A2 and A3.

Authors:  R G Frost; E W Holmes; A G Norden; J S O'Brien
Journal:  Biochem J       Date:  1978-10-01       Impact factor: 3.857

8.  Nature of the mutation in adult beta-galactosidase deficient patients.

Authors:  J S O'Brien; A G Norden
Journal:  Am J Hum Genet       Date:  1977-03       Impact factor: 11.025

9.  Regional localization of a beta-galactosidase locus on human chromosome 22.

Authors:  J De Wit; H L Hoeksema; D Halley; A Hagemeijer; D Bootsma; A Westerveld
Journal:  Somatic Cell Genet       Date:  1977-07

10.  Loss of human genetic markers in man--Chinese hamster somatic cell hybrids.

Authors:  A Westerveld; R P Visser; P Meera Khan; D Bootsma
Journal:  Nat New Biol       Date:  1971-11-03
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  6 in total

1.  The binding of human liver acid beta-galactosidase to wheat-germ lectin is influenced by aggregation state of the enzyme.

Authors:  C M Heyworth; C H Wynn
Journal:  Biochem J       Date:  1982-03-01       Impact factor: 3.857

2.  Basic defect in the expression of adenosine deaminase in ADA-SCID disease. II. Deficiency of ADA-CRM detected in heterozygote human-Chinese hamster cell hybrids.

Authors:  E Herbschleb-Voogt; J W Scholten; P Meera Khan
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

3.  Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

Authors:  A D'Azzo; A Hoogeveen; A J Reuser; D Robinson; H Galjaard
Journal:  Proc Natl Acad Sci U S A       Date:  1982-08       Impact factor: 11.205

4.  The chromosomal localization of human beta-galactosidase revisited: a locus for beta-galactosidase on human chromosome 3 and for its protective protein on human chromosome 22.

Authors:  H J Sips; H A de Wit-Verbeek; J de Wit; A Westerveld; H Galjaard
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

5.  Human beta-galactosidase and alpha-neuraminidase deficient mucolipidosis: genetic complementation analysis of the neuraminidase deficiency.

Authors:  O T Mueller; T B Shows
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

6.  Turnover of beta-galactosidase in fibroblasts from patients with genetically different types of beta-galactosidase deficiency.

Authors:  O P Van Diggelen; A W Schram; M L Sinnott; P J Smith; D Robinson; H Galjaard
Journal:  Biochem J       Date:  1981-10-15       Impact factor: 3.857
  6 in total

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