(Q62393942)

English

Pseudodeficiency of arylsulphatase A: Strategy for clarification of genotype in families of subjects with low ASA activity and neurological symptoms

scientific article published on 01 January 1995

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750609%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

Pseudodeficiency of arylsulphatase A: strategy for clarification of genotype in families of subjects with low ASA activity and neurological symptoms (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750609%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

Sandra Leistner-Segal

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750609%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

author name string

E Young

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750609%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

C Meaney

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750609%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

B Winchester

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750609%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

publication date

1 January 1995

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750609%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750609%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

18

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750609%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750609%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

710-716

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8750609%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

https://scigraph.springernature.com/pub.10.1007/bf02436761

0 references

Sequence variations in the first exon of alpha-galactosidase A.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simple chromogenic assay for arylsulfatase A

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The molecular detection of the pseudodeficiency allele for arylsulphatase A in patients with neurological symptoms and low arylsulphatase A activity.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Arylsulfatase A pseudodeficiency: a common polymorphism which is associated with a unique haplotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal Diagnosis of Metachromatic Leukodystrophy in a Family with Pseudo Arylsulfatase A Deficiency by the Cerebroside Sulfate Loading Test

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Searching for mutations in the arylsulphatase A gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis of metachromatic leukodystrophy, Krabbe disease, and Farber disease after uptake of fatty acid-labeled cerebroside sulfate into cultured skin fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Population frequency of the arylsulphatase A pseudo-deficiency allele

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8750609

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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