Literature DB >> 2964543

GM2-gangliosidosis variant with altered substrate specificity: evidence for alpha-locus genetic compound.

G T Besley1, D M Broadhead, J A Young.   

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Year:  1987        PMID： 2964543     DOI： 10.1007/bf01799987

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  4 in total

Review 1.  Biochemistry and genetics of gangliosidoses.

Authors:  K Sandhoff; H Christomanou
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

2.  Genetic complementation in somatic cell hybrids of four variants of infantile GM2 gangliosidosis.

Authors:  S Sonderfeld; S Brendler; K Sandhoff; H Galjaard; A T Hoogeveen
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

3.  Differentiation of two variants of type-AB GM2-gangliosidosis using chromogenic substrates.

Authors:  Y T Li; Y Hirabayashi; S C Li
Journal:  Am J Hum Genet       Date:  1983-05       Impact factor: 11.025

4.  Late onset GM2 gangliosidosis: an alpha-locus genetic compound with near normal hexosaminidase activity.

Authors:  J Charrow; K Inui; D A Wenger
Journal:  Clin Genet       Date:  1985-01       Impact factor: 4.438
  4 in total
  3 in total

1.  A case of the B1 variant of GM2-gangliosidosis.

Authors:  R G Gray; A Green; L Rabb; D M Broadhead; G T Besley
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Prenatal diagnosis of inherited metabolic disease by chorionic villus analysis: the Edinburgh experience.

Authors:  G T Besley; D M Broadhead
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

3.  The biochemical diagnosis of lysosomal storage diseases--a review of five years experience.

Authors:  I J Wallace; C A McCusker; D McCormick
Journal:  Ir J Med Sci       Date:  1990-07       Impact factor: 1.568
  3 in total

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