(Q51573954)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9290607%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9290607%20AND%20SRC:MED&resulttype=core&format=json

carnitine-acylcarnitine translocase deficiency

5 November 2019

main subject

0 references

author

Charles A Stanley

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9290607%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

author name string

R A Chalmers

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9290607%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

N English

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9290607%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

J S Wigglesworth

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9290607%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

language of work or name

English

0 references

publication date

1 August 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9290607%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Pediatrics

5 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9290607%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

volume

131

1 reference

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5 November 2019

issue

2

1 reference

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5 November 2019

page(s)

220-225

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9290607%20AND%20SRC:MED&resulttype=core&format=json

Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970157-4

Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970157-4

Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970157-4

A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970157-4

A carnitine/acylcarnitine translocase assay applicable to biopsied muscle specimens without requiring mitochondrial isolation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970157-4

Urinary C6-C12 dicarboxylic acylcarnitines in Reye's syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970157-4

Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970157-4

Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970157-4

Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970157-4

Conclusive evidence that very-long-chain fatty acids are oxidized exclusively in peroxisomes in human skin fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2897%2970157-4

10.1016/S0022-3476(97)70157-4

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9290607%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference