Literature DB >> 2949109

Hexosaminidase A activity in skin fibroblasts from various types of GM2 gangliosidosis using a fluorogenic sulphated substrate.

K Inui, T Yutaka, S Okada, H Yabuuchi, D A Wenger, R J Desnick.   

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Year:  1985        PMID： 2949109     DOI： 10.1007/bf01819302

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


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  10 in total

1.  A new variant of type-AB GM2-gangliosidosis.

Authors:  S C Li; Y Hirabayashi; Y T Li
Journal:  Biochem Biophys Res Commun       Date:  1981-07-30       Impact factor: 3.575

2.  Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.

Authors:  E Conzelmann; H J Kytzia; R Navon; K Sandhoff
Journal:  Am J Hum Genet       Date:  1983-09       Impact factor: 11.025

3.  Diagnosis of Tay-Sachs disease by estimation of beta-N-acetylhexosaminidase activity using a radiolabeled hyaluronic acid-derived trisaccharide substrate.

Authors:  T Yutaka; T Kato; M Midorikawa; M Doke; S Okada; H Yabuuchi
Journal:  Clin Chim Acta       Date:  1984-02-28       Impact factor: 3.786

4.  Usefulness of 4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta-D-glucopyrano sid e for the diagnosis of GM2 gangliosidoses in leukocytes.

Authors:  K Inui; D A Wenger
Journal:  Clin Genet       Date:  1984-10       Impact factor: 4.438

5.  Juvenile GM2 gangliosidosis (AMB variant): inability to activate hexosaminidase A by activator protein.

Authors:  K Inui; E E Grebner; L G Jackson; D A Wenger
Journal:  Am J Hum Genet       Date:  1983-07       Impact factor: 11.025

6.  Tay-Sachs disease: one-step assay of beta-N-acetylhexosaminidase in serum with a sulphated chromogenic substrate.

Authors:  W Fuchs; R Navon; M M Kaback; H Kresse
Journal:  Clin Chim Acta       Date:  1983-10-14       Impact factor: 3.786

7.  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

8.  Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine cases.

Authors:  J P Willner; G A Grabowski; R E Gordon; A N Bender; R J Desnick
Journal:  Neurology       Date:  1981-07       Impact factor: 9.910

9.  Liberation of N-acetylglucosamine-6-sulfate by human beta-N-acetylhexosaminidase A.

Authors:  H Kresse; W Fuchs; J Glössl; D Holtfrerich; W Gilberg
Journal:  J Biol Chem       Date:  1981-12-25       Impact factor: 5.157

10.  Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity.

Authors:  H J Kytzia; U Hinrichs; I Maire; K Suzuki; K Sandhoff
Journal:  EMBO J       Date:  1983       Impact factor: 11.598
  10 in total
  1 in total

1.  Metabolism of cerebroside sulphate and subcellular distribution of its metabolites in cultured skin fibroblasts derived from controls, metachromatic leukodystrophy, globoid cell leukodystrophy and Farber disease.

Authors:  K Inui; M Furukawa; J Nishimoto; S Okada; H Yabuuchi
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982
  1 in total

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