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Molecular genetics of metachromatic leukodystrophy
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
7866401
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866401%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
review article
1 reference
stated in
Europe PubMed Central
title
Molecular genetics of metachromatic leukodystrophy
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
7866401
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866401%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
main subject
molecular genetics
1 reference
based on heuristic
inferred from title
metachromatic leukodystrophy
1 reference
based on heuristic
inferred from title
author
Charles Phillip Morris
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed ID
7866401
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866401%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
author name string
Gieselmann V
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
7866401
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866401%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
Zlotogora J
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
7866401
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866401%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
Harris A
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
7866401
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866401%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
Wenger DA
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed ID
7866401
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866401%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
language of work or name
English
0 references
publication date
1 January 1994
1 reference
stated in
Europe PubMed Central
PubMed ID
7866401
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866401%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed ID
7866401
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866401%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
volume
4
1 reference
stated in
Europe PubMed Central
PubMed ID
7866401
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866401%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
issue
4
1 reference
stated in
Europe PubMed Central
PubMed ID
7866401
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866401%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
page(s)
233-242
1 reference
stated in
Europe PubMed Central
PubMed ID
7866401
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866401%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
cites work
The activator of cerebroside sulphatase binding studies with enzyme and substrate demonstrating the detergent function of the activator protein
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
21 January 2018
Pseudo arylsulfatase A deficiency. Biosynthesis of an abnormal arylsulfatase A
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Biosynthesis of the sulfatide/GM1 activator protein (SAP-1) in control and mutant cultured skin fibroblasts
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Activator protein-deficient metachromatic leukodystrophy: diagnosis in leukocytes using immunologic methods
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The precursor of sulfatide activator protein is processed to three different proteins
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The incidence and genetics of metachromatic leucodystrophy in northern Sweden
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Metachromatic leukodystrophy: a nonsense mutation (Q486X) in the arylsulphatase A (ARSA) gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The organization of the gene for the human cerebroside sulfate activator protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Late-onset metachromatic leukodystrophy: molecular pathology in two siblings
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Complex arylsulfatase A alleles causing metachromatic leukodystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structure of the arylsulfatase A gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI 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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Population frequency of the arylsulphatase A pseudo-deficiency allele
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular basis of different forms of metachromatic leukodystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structure and evolution of the human prosaposin chromosomal gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sphingolipid activator protein 1 deficiency in metachromatic leucodystrophy with normal arylsulphatase A activity. A clinical, morphological, biochemical and immunological study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Metachromatic leukodystrophy without arylsulfatase A deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The mechanism for a 33-nucleotide insertion in mRNA causing sphingolipid activator protein (SAP-1)-deficient metachromatic leukodystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380040402
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.1380040402
1 reference
stated in
Europe PubMed Central
PubMed ID
7866401
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866401%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
PubMed ID
7866401
1 reference
stated in
Europe PubMed Central
PubMed ID
7866401
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7866401%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
ResearchGate publication ID
227904123
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