(Q71162249)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7365583%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

title

Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7365583%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference

holocarboxylase synthetase deficiency

1 reference

K S Roth

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7365583%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

W Yang

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7365583%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

J W Foremann

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7365583%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

R Rothman

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7365583%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

S Segal

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7365583%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

language of work or name

English

0 references

publication date

1 May 1980

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7365583%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Pediatrics

16 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7365583%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

volume

96

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7365583%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7365583%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

page(s)

845-849

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7365583%20AND%20SRC:MED&resulttype=core&format=json

Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism

16 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2880%2980554-3

Biotin-responsive beta-methylcrotonylglycinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2880%2980554-3

Child with a defect in leucine metabolism associated with beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2880%2980554-3

Organic aciduria. Treatable cause of floppy infant syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2880%2980554-3

Massive excretion of 2-oxoglutaric acid and 3-hydroxyisovaleric acid in a patient with a deficiency of 3-methylcrotonyl-CoA carboxylase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2880%2980554-3

Beta-methylcrotonic aciduria associated with lactic acidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2880%2980554-3

Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2880%2980554-3

Megavitamin responsive aminoacidopathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2880%2980554-3

Evaluation of continuous solvent extraction of organic acids from biological fluids

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2880%2980554-3

Increased urinary excretion of 3-hydroxyisovaleric acid in patients with ketoacidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2880%2980554-3

Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2880%2980554-3

Organic aciduria in hypoxic premature newborns simulating an inborn error of metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2880%2980554-3

The inactivation of pyruvate dehydrogenase by fatty acid in isolated rat liver mitochondria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2880%2980554-3

Biotin-responsive alopecia and developmental regression

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2880%2980554-3

Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2880%2980554-3

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0022-3476(80)80554-3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7365583%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference