(Q72449477)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7833949%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

title

Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7833949%20AND%20SRC:MED&resulttype=core&format=json

metachromatic leukodystrophy

26 October 2019

main subject

1 reference

Pastor-Soler NM

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7833949%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

Rafi MA

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7833949%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

Hoffman JD

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7833949%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

Hu D

4

1 reference

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26 October 2019

Wenger DA

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7833949%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

publication date

1 January 1994

1 reference

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26 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7833949%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

volume

4

1 reference

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26 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7833949%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

page(s)

199-207

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7833949%20AND%20SRC:MED&resulttype=core&format=json

A CONTROLLED STUDY OF ENZYMIC ACTIVITIES IN THREE HUMAN DISORDERS OF GLYCOLIPID METABOLISM

26 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040305

7 January 2021

The assay of arylsulphatases A and B in human urine

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040305

7 January 2021

Rapid preparation of genomic DNA from dried blood and saliva spots for polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040305

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040305

7 January 2021

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040305

7 January 2021

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040305

7 January 2021

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040305

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040305

7 January 2021

Molecular Genetics of Metachromatic Leukodystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040305

7 January 2021

A variant form of metachromatic leukodystrophy without arylsulfatase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040305

7 January 2021

Arylsulfatase A in pseudodeficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040305

7 January 2021

Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screening

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040305

7 January 2021

Structure of the arylsulfatase A gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040305

7 January 2021

Treatment of Late Infantile Metachromatic Leukodystrophy by Bone Marrow Transplantation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040305

7 January 2021

Diagnosis of metachromatic leukodystrophy, Krabbe disease, and Farber disease after uptake of fatty acid-labeled cerebroside sulfate into cultured skin fibroblasts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040305

7 January 2021

Leukocyte sonicates as a source for both enzyme assay and DNA amplification for mutational analysis of certain lysosomal disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040305

7 January 2021

A catalogue of splice junction sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040305

7 January 2021

Evidence for an essential non-Watson–Crick interaction between the first and last nucleotides of a nuclear pre-mRNA intron

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040305

7 January 2021

Molecular basis of different forms of metachromatic leukodystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040305

7 January 2021

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040305

7 January 2021

Metachromatic leukodystrophy without arylsulfatase A deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380040305

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380040305

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7833949%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

1 reference