(Q30501589)

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Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8095368%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8095368%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

metachromatic leukodystrophy

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author name string

Penzien JM

1

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24 October 2019

Kappler J

2

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24 October 2019

Herschkowitz N

3

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24 October 2019

Schuknecht B

4

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24 October 2019

Leinekugel P

5

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24 October 2019

Propping P

6

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24 October 2019

Tønnesen T

7

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24 October 2019

Lou H

8

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24 October 2019

Moser H

9

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24 October 2019

Zierz S

10

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24 October 2019

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1 March 1993

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24 October 2019

American Journal of Human Genetics

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24 October 2019

52

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24 October 2019

3

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24 October 2019

557-564

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24 October 2019

Arylsulfatase A in pseudodeficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682149

20 June 2018

Metachromatic leukodystrophy and pseudoarylsulfatase A deficiency in a Danish family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682149

20 June 2018

Aryl sulfatase A deficiency in psychiatric and neurologic patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682149

20 June 2018

The influence of low arylsulfatase A activity on neuropsychiatric morbidity: a large-scale screening in patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682149

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682149

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682149

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682149

20 June 2018

Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682149

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682149

20 June 2018

Molecular basis of different forms of metachromatic leukodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682149

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682149

20 June 2018

Juvenile-onset metachromatic leukodystrophy: Biochemical and electrophysiologic studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682149

20 June 2018

Phenotypic Consequences of Low Arylsulfatase A Genotypes (ASAp/ASAp and ASA<sup>–</sup>/ASAp): Does There Exist an Association with Multiple Sclerosis?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682149

26 November 2018

Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682149

26 November 2018

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/8095368

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/8095368

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial enzyme deficiencies: residual activities and the development of neurological disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/8095368

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Computed tomography in late-onset metachromatic leucodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8095368

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/8095368

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8095368%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8095368%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

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