(Q33678969)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9192271%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9192271%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

0 references

Marion Coulter-Mackie

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9192271%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

author name string

L Gagnier

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9192271%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

M J Beis

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9192271%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

D A Applegarth

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9192271%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

D E Cole

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9192271%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

K Gordon

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9192271%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

M D Ludman

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9192271%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

language of work or name

English

0 references

publication date

1 June 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9192271%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

3 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9192271%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

volume

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9192271%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9192271%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

page(s)

493-498

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9192271%20AND%20SRC:MED&resulttype=core&format=json

Protein measurement with the Folin phenol reagent

3 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050974

Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050974

Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050974

The differential diagnosis of adult onset metachromatic leukodystrophy and early onset familial Alzheimer disease in an Alzheimer clinic population.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050974

How sensitive is PCR-SSCP?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050974

"Pseudodeficiencies" of lysosomal hydrolases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050974

Molecular genetics of metachromatic leukodystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050974

Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050974

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050974

Structure of the arylsulfatase A gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050974

Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050974

Molecular basis of different forms of metachromatic leukodystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050974

Site-directed mutagenesis of virtually any plasmid by eliminating a unique site

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050974

A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050974

Evidence for a hybrid hexosaminidase isoenzyme in heterozygotes for Sandhoff disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050974

Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050974

The assay of arylsulphatases A and B in human urine

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9192271

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.34.6.493

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9192271%20AND%20SRC:MED&resulttype=core&format=json

release_s5yiinr4rfehrhvz3pg5lro3vy

3 November 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/s5yiinr4rfehrhvz3pg5lro3vy

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9192271%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

PubMed publication ID

9192271

1 reference