(Q70022081)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2949109%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2949109%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

1 reference

K Inui

1

1 reference

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7 October 2019

T Yutaka

2

1 reference

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7 October 2019

S Okada

3

1 reference

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7 October 2019

H Yabuuchi

4

1 reference

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7 October 2019

D A Wenger

5

1 reference

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7 October 2019

R J Desnick

6

1 reference

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7 October 2019

publication date

1 January 1985

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2949109%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

7 October 2019

published in

1 reference

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7 October 2019

volume

8

1 reference

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7 October 2019

issue

3

1 reference

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7 October 2019

page(s)

149-150

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf01819302

7 October 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A new variant of Type-AB GM2-gangliosidosis

1 reference

12 December 2020

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

1 reference

12 December 2020

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.

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01819302

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2949109%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

1 reference