(Q35536521)

8 August 2017

1 reference

title

A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition (English)

1 reference

8 August 2017

A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition (English)

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1447668

27 September 2022

1 reference

K. C. Leung

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1447668

27 September 2022

J. W. Hammond

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1447668

27 September 2022

S. Chabra

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1447668

27 September 2022

K. H. Carpenter

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1447668

27 September 2022

M. Potter

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1447668

27 September 2022

B. Wilcken

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1447668

27 September 2022

language of work or name

English

0 references

publication date

1 December 1992

1 reference

The Journal of Pediatrics

8 August 2017

1 reference

8 August 2017

121

1 reference

8 August 2017

965-968

1 reference

8 August 2017

6

1 reference

Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings

8 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980353-1

Diagnosis of medium chain acyl-CoA dehydrogenase (MCAD) deficiency in an asymptomatic neonate

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980353-1

Measurement of L-carnitine and acylcarnitines in body fluids and tissues in children and in adults

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980353-1

Frequency of the G985 MCAD mutation in the general population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980353-1

Diagnosis of medium chain acyl-CoA dehydrogenase deficiency in the newborn

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980353-1

Carnitine plasma concentrations in 353 metabolically healthy children.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980353-1

Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980353-1

Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2980353-1

10.1016/S0022-3476(05)80353-1

7 January 2021

Identifiers

DOI

1 reference

8 August 2017

1 reference