(Q70123413)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3003318%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

title

Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3003318%20AND%20SRC:MED&resulttype=core&format=json

Duchenne muscular dystrophy

8 October 2019

main subject

1 reference

based on heuristic

inferred from title

glycerol kinase deficiency

1 reference

based on heuristic

inferred from title

adrenal insufficiency

1 reference

J A Bartley

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3003318%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

S Patil

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3003318%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

S Davenport

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3003318%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

D Goldstein

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3003318%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

J Pickens

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3003318%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

language of work or name

English

0 references

publication date

1 February 1986

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3003318%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Pediatrics

8 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3003318%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

volume

108

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3003318%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3003318%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

page(s)

189-192

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3003318%20AND%20SRC:MED&resulttype=core&format=json

Familial hyperglycerolemia

8 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980980-5

Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980980-5

Human glycerol kinase deficiency: An inborn error of compartmental metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980980-5

A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980980-5

Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980980-5

'Pseudohypertriglyceridemia' caused by hyperglycerolemia due to congenital enzyme deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980980-5

High Resolution of Human Chromosomes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980980-5

Glycerol kinase deficiency inhibits glycerol utilization in phosphoglyceride and triacylglycerol biosynthesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980980-5

Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2886%2980980-5

10.1016/S0022-3476(86)80980-5

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3003318%20AND%20SRC:MED&resulttype=core&format=json

8 October 2019

1 reference