(Q84823970)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19879173%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

title

A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19879173%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

main subject

spinal muscular atrophy

1 reference

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19879173%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Pawel Kowalski

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19879173%20AND%20SRC:MED&resulttype=core&format=json

Dorota Piekutowska-Abramczuk

11 February 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19879173%20AND%20SRC:MED&resulttype=core&format=json

Agnieszka Karkucinska-Wieckowska

11 February 2020

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19879173%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Magdalena Pajdowska

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19879173%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Marek Migdal

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19879173%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Jolanta Sykut-Cegielska

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19879173%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

12

Ewa Popowska

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19879173%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

author name string

Joanna Taybert

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19879173%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Tamara Szymanska-Debinska

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19879173%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Elzbieta Karczmarewicz

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19879173%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Bogumila Milewska-Bobula

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19879173%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

publication date

29 October 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19879173%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Paediatric Neurology

11 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19879173%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19879173%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19879173%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

page(s)

253-260

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19879173%20AND%20SRC:MED&resulttype=core&format=json

Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates.

11 February 2020

cites work

1 reference

9 November 2024

https://opencitations.net/index/api/v1/citations/10.1023/A:1012937204315

Identifiers

DOI

10.1016/J.EJPN.2009.09.008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19879173%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference