(Q67482106)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301949%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

title

An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results in a severe Maroteaux-Lamy phenotype (English)

1 reference

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13 September 2019

1 reference

Charles Phillip Morris

2

1 reference

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13 September 2019

author name string

Litjens T

1

1 reference

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13 September 2019

Robertson EF

3

1 reference

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13 September 2019

Peters C

4

1 reference

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13 September 2019

von Figura K

5

1 reference

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13 September 2019

Hopwood JJ

6

1 reference

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13 September 2019

publication date

1 January 1992

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13 September 2019

1 reference

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13 September 2019

volume

1

1 reference

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13 September 2019

issue

5

1 reference

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13 September 2019

page(s)

397-402

1 reference

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

13 September 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010509

7 January 2021

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010509

7 January 2021

Uridine diphospho-N-acetylgalactosamine-4-sulfate sulfohydrolase activity of human arylsulfatase B and its deficiency in the Maroteaux-Lamy syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010509

7 January 2021

Diagnosis of Maroteaux-Lamy syndrome by the use of radiolabelled oligosaccharides as substrates for the determination of arylsulphatase B activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010509

7 January 2021

High-resolution electrophoresis of urinary glycosaminoglycans: an improved screening test for the mucopolysaccharidoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010509

7 January 2021

A common polymorphism in the human arylsulfatase B (ARSB) gene at 5q13-q14

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010509

7 January 2021

Deficiency of chondroitin sulfate N-acetylgalactosamine 4-sulfate sulfatase in Maroteaux-Lamy syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010509

7 January 2021

Improved double-stranded DNA sequencing using the linear polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010509

7 January 2021

Maroteaux-Lamy disease (mucopolysaccharidosis VI), subtype A: deficiency of a N-acetylgalactosamine-4-sulfatase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010509

7 January 2021

Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatases A and C.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010509

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380010509

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301949%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

1 reference