(Q68292909)

English

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

scientific article published on 01 January 1991

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1671769%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

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

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1671769%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

metachromatic leukodystrophy

1 reference

based on heuristic

inferred from title

genetic counseling

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671769

25 October 2022

1 reference

10.1007/BF00202403

https://api.crossref.org/works/10.1007/BF00202403

25 October 2022

author name string

V. Gieselmann

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671769

25 October 2022

language of work or name

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1671769

25 October 2022

publication date

1 January 1991

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1671769%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

full work available at URL

http://link.springer.com/content/pdf/10.1007/BF00202403.pdf

Portable Document Format

1 reference

10.1007/BF00202403

https://api.crossref.org/works/10.1007/BF00202403

25 October 2022

http://link.springer.com/article/10.1007/BF00202403/fulltext.html

1 reference

10.1007/BF00202403

https://api.crossref.org/works/10.1007/BF00202403

25 October 2022

http://link.springer.com/content/pdf/10.1007/BF00202403

1 reference

10.1007/BF00202403

https://api.crossref.org/works/10.1007/BF00202403

25 October 2022

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1671769%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

86

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1671769%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1671769%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

251-255

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1671769%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

https://scigraph.springernature.com/pub.10.1007/bf00202403

0 references

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

1 reference

https://pubmed.ncbi.nlm.nih.gov/1671769

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inheritance of metachromatic leukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/1671769

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pseudodeficiency of arylsulfatase A: a counseling dilemma.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1671769

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Arylsulfatase A in pseudodeficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/1671769

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/1671769

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family

1 reference

https://pubmed.ncbi.nlm.nih.gov/1671769

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/1671769

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The incidence and genetics of metachromatic leucodystrophy in northern Sweden

1 reference

https://pubmed.ncbi.nlm.nih.gov/1671769

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Low arylsulphatase A activity and choreoathetotic syndrome in three siblings: differentiation of pseudodeficiency from metachromatic leukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/1671769

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/1671769

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning and expression of human arylsulfatase A

1 reference

https://pubmed.ncbi.nlm.nih.gov/1671769

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Allele-specific enzymatic amplification of beta-globin genomic DNA for diagnosis of sickle cell anemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1671769

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00202403

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1671769%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1671769%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

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