(Q68034633)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1517917%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

title

Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1517917%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

1 reference

O N Elpeleg

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1517917%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

S Havkin

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1517917%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

V Barash

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1517917%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

C Jakobs

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1517917%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

B Glick

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1517917%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

R S Shalev

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1517917%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

language of work or name

English

0 references

publication date

1 September 1992

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1517917%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Pediatrics

20 September 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1517917%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

volume

121

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1517917%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1517917%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

page(s)

407-410

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1517917%20AND%20SRC:MED&resulttype=core&format=json

Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia.

20 September 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981796-2

Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981796-2

Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981796-2

Two siblings with biotin-resistant 3-methylcrotonyl-coenzyme A carboxylase deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981796-2

Urinary excretion of succinylacetone and delta-aminolevulinic acid in patients with hereditary tyrosinemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981796-2

Pyruvate-carboxylase deficiency with urea cycle impairment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2981796-2

10.1016/S0022-3476(05)81796-2

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1517917%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

1 reference