(Q40539443)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8101038%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

title

High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8101038%20AND%20SRC:MED&resulttype=core&format=json

metachromatic leukodystrophy

25 October 2019

main subject

1 reference

Kreysing J

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8101038%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Bohne W

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8101038%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Bösenberg C

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8101038%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Marchesini S

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8101038%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Turpin JC

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8101038%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Baumann N

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8101038%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

von Figura K

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8101038%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

Gieselmann V

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8101038%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

language of work or name

English

0 references

publication date

1 August 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8101038%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

25 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8101038%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

volume

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8101038%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

page(s)

339-346

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8101038%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8101038%20AND%20SRC:MED&resulttype=core&format=json

Transformation of mammalian cells to antibiotic resistance with a bacterial gene under control of the SV40 early region promoter

25 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682342

Inhibition of restriction endonuclease Nci I cleavage by phosphorothioate groups and its application to oligonucleotide-directed mutagenesis

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682342

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682342

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682342

Cloning and expression of human arylsulfatase A

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682342

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682342

Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682342

Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682342

An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682342

Molecular basis of different forms of metachromatic leukodystrophy

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682342

Uptake and metabolism of a fluorescent sulfatide analogue in cultured skin fibroblasts

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682342

Metachromatic leukodystrophy without arylsulfatase A deficiency

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682342

Human lysosomal acid phosphatase is transported as a transmembrane protein to lysosomes in transfected baby hamster kidney cells

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682342

Arylsulfatase A in pseudodeficiency

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682342

Vectors for efficient expression in mammalian fibroblastoid, myeloid and lymphoid cells via transfection or infection.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682342

Clinical, pathological, and biochemical studies on an infantile case of sulfatide/GM1 activator protein deficiency

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682342

Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682342

Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682342

In vitro mutagenesis of potential N-glycosylation sites of arylsulfatase A. Effects on glycosylation, phosphorylation, and intracellular sorting

20 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8101038

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Correlation of the dispersion state of pyrene cerebroside sulfate and its uptake and degradation by cultured cells

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8101038

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Synthesis and Processing of Arylsulfatase A in Human Skin Fibroblasts

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8101038

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8101038%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1 reference