(Q51934192)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15637719%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

title

An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15637719%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference

Guglielmo Rosario Domenico Villani

4

1 reference

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7 January 2020

author name string

Orazio Gabrielli

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15637719%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Giovanni V Coppa

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15637719%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Stefano Bruni

3

1 reference

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7 January 2020

Gianfranco Pontarelli

5

1 reference

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7 January 2020

Paola Di Natale

6

1 reference

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7 January 2020

language of work or name

English

0 references

publication date

1 February 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15637719%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

7 January 2020

published in

1 reference

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7 January 2020

volume

133A

1 reference

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7 January 2020

issue

1

1 reference

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7 January 2020

page(s)

85-89

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15637719%20AND%20SRC:MED&resulttype=core&format=json

Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects

7 January 2020

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.30552

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.30552

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15637719%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference