(Q48071808)

8 February 2018

title

An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient (English)

1 reference

8 February 2018

metachromatic leukodystrophy

main subject

1 reference

1

S. Regis

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7635478

27 June 2024

author name string

R. Carrozzo

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7635478

27 June 2024

M. Filocamo

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7635478

27 June 2024

G. Serra

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7635478

27 June 2024

C. Mastropaolo

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7635478

27 June 2024

R. Gatti

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7635478

27 June 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7635478

27 June 2024

publication date

1 August 1995

1 reference

8 February 2018

full work available at URL

http://link.springer.com/content/pdf/10.1007/BF00207387.pdf

file format

Portable Document Format

1 reference

https://api.crossref.org/works/10.1007/BF00207387

http://link.springer.com/article/10.1007/BF00207387/fulltext.html

27 June 2024

1 reference

https://api.crossref.org/works/10.1007/BF00207387

http://link.springer.com/content/pdf/10.1007/BF00207387

27 June 2024

1 reference

https://api.crossref.org/works/10.1007/BF00207387

27 June 2024

1 reference

8 February 2018

volume

96

1 reference

8 February 2018

issue

2

1 reference

8 February 2018

page(s)

233-235

1 reference

8 February 2018

Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA

cites work

1 reference

12 December 2020

Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations

1 reference

12 December 2020

Molecular genetics of metachromatic leukodystrophy

1 reference

12 December 2020

Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing

1 reference

12 December 2020

'Cold SSCP': a simple, rapid and non-radioactive method for optimized single-strand conformation polymorphism analyses

1 reference

12 December 2020

Molecular basis of different forms of metachromatic leukodystrophy

1 reference

12 December 2020

The assay of arylsulphatases A and B in human urine

1 reference

12 December 2020

Structure of the arylsulfatase A gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00207387

1 reference

8 February 2018

1 reference

8 February 2018