(Q71512421)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7472823%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

title

Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7472823%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7472823%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

author name string

H Ogier de Baulny

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7472823%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

A Slama

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7472823%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

G Touati

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7472823%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

D M Turnbull

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7472823%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

M Brivet

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7472823%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

language of work or name

English

0 references

publication date

1 November 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7472823%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Pediatrics

19 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7472823%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

volume

127

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7472823%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

issue

5

1 reference

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19 October 2019

page(s)

723-728

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7472823%20AND%20SRC:MED&resulttype=core&format=json

Inborn errors of urea synthesis

19 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970160-5

The changing face of disorders of fatty acid oxidation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970160-5

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%2895%2970160-5

Products and intermediates of the beta-oxidation of [U-14C]hexadecanedionoyl-mono-CoA by rat liver peroxisomes and mitochondria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970160-5

Gastrointestinal tolerance, fat absorption, plasma ketone and urinary dicarboxylic acid levels in low-birth-weight infants fed different amounts of medium-chain triglycerides in formula.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970160-5

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%2895%2970160-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970160-5

Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970160-5

Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970160-5

Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970160-5

Adaptations of glucose and fatty acid metabolism during perinatal period and suckling-weaning transition

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970160-5

Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970160-5

3-Hydroxydicarboxylic aciduria--a fatty acid oxidation defect with severe prognosis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970160-5

3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970160-5

Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970160-5

10.1016/S0022-3476(95)70160-5

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7472823%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1 reference