(Q45199881)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15617188%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

title

Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15617188%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15617188%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

author name string

N Makhseed

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15617188%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

M Potter

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15617188%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

P J Waters

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15617188%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

L T K Wong

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15617188%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Y Lillquist

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15617188%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

M Pasquali

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15617188%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

C Amat di San Filippo

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15617188%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

N Longo

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15617188%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

publication date

1 January 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15617188%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

6 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15617188%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

volume

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15617188%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

issue

6

1 reference

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6 January 2020

page(s)

778-780

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15617188%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1023/b:boli.0000045837.23328.f4

6 January 2020

exact match

0 references

cites work

Silent and symptomatic primary carnitine deficiency within the same family due toidentical mutations in the organic cation/carnitine transporter OCTN2

1 reference

https://api.crossref.org/works/10.1023%2FB%3ABOLI.0000045837.23328.F4

7 January 2021

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

1 reference

https://api.crossref.org/works/10.1023%2FB%3ABOLI.0000045837.23328.F4

7 January 2021

Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.

1 reference

https://api.crossref.org/works/10.1023%2FB%3ABOLI.0000045837.23328.F4

7 January 2021

Phenotype and genotype variation in primary carnitine deficiency

1 reference

https://api.crossref.org/works/10.1023%2FB%3ABOLI.0000045837.23328.F4

7 January 2021