(Q73951614)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9403664%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

title

Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9403664%20AND%20SRC:MED&resulttype=core&format=json

long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

8 November 2019

main subject

0 references

1 reference

T Tyni

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9403664%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

J Rapola

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9403664%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

A Palotie

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9403664%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

H Pihko

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9403664%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

language of work or name

English

0 references

publication date

1 November 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9403664%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Pediatrics

8 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9403664%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

volume

131

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9403664%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

page(s)

766-768

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9403664%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9403664%20AND%20SRC:MED&resulttype=core&format=json

Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria

8 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970111-2

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970111-2

Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970111-2

The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970111-2

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970111-2

Hypoparathyroidism in mitochondrial trifunctional protein deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970111-2

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970111-2

Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 34-1987. A 30-year-old woman with an ocular motility disturbance, myopathy, and hypocalcemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970111-2

Endocrine dysfunction in Kearns-Sayre syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970111-2

10.1016/S0022-3476(97)70111-2

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9403664%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference