(Q73482738)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196113%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196113%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

author name string

B K Goodman

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196113%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

J Rutberg

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196113%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

W W Lin

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196113%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

A E Pulver

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196113%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

G H Thomas

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196113%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

publication date

1 December 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196113%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

4 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196113%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196113%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196113%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

page(s)

847-848

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11196113%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1023/a:1026773005303

4 November 2019

exact match

0 references

cites work

Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11196113

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11196113