(Q72213548)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8095918%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

title

Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8095918%20AND%20SRC:MED&resulttype=core&format=json

metachromatic leukodystrophy

24 October 2019

main subject

1 reference

M L Barth

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8095918%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

A Fensom

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8095918%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

A Harris

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8095918%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

publication date

1 March 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8095918%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8095918%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

volume

91

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8095918%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8095918%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

page(s)

73-77

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8095918%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00230227

24 October 2019

exact match

0 references

cites work

A simple and novel method for tritium labeling of gangliosides and other sphingolipids

1 reference

12 December 2020

Metachromatic leucodystrophy: review of 38 cases

1 reference

12 December 2020

A simple chromogenic assay for arylsulfatase A

1 reference

12 December 2020

Metachromatic leukodystrophy: conduct disorder progressing to dementia

1 reference

12 December 2020

Absence of ASA Activity in Healthy Father of a Patient with Metachromatic Leukodystrophy

1 reference

12 December 2020

Molecular basis of different forms of metachromatic leukodystrophy

1 reference

12 December 2020

Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy

1 reference

12 December 2020

Leukocyte Sulfatidase for the Reliable Diagnosis of Metachromatic Leukodystrophy

1 reference

12 December 2020

Pseudodeficiency of arylsulfatase A: a common genetic polymorphism with possible disease implications

1 reference

12 December 2020

Structure of the arylsulfatase A gene

1 reference

12 December 2020

Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site

1 reference

12 December 2020

Cloning and expression of human arylsulfatase A

1 reference

12 December 2020

Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00230227

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8095918%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference