(Q67580369)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1432428%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

title

Variability of clinical presentation in fumarate hydratase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1432428%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

author name string

O. N. Elpeleg

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1432428

26 September 2022

N. Amir

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1432428

26 September 2022

E. Christensen

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1432428

26 September 2022

language of work or name

English

0 references

publication date

1 November 1992

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1432428%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Pediatrics

15 September 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1432428%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

volume

121

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1432428%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

issue

5 Pt 1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1432428%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

page(s)

752-754

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1432428%20AND%20SRC:MED&resulttype=core&format=json

Fumaric aciduria: a new organic aciduria, associated with mental retardation and speech impairment

15 September 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981910-9

Fumarase deficiency: a new cause of mitochondrial encephalomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981910-9

A fourth case of fumarase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981910-9

Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981910-9

A simple spectrophotometric assay for fumarate hydratase in crude tissue extracts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981910-9

Intracellular Distribution of Fumarase in Various Animals1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981910-9

Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981910-9

10.1016/S0022-3476(05)81910-9

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1432428%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

1 reference