(Q67690769)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1710267%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

title

Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1710267%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

1 reference

3-methylglutaconic aciduria

1 reference

based on heuristic

inferred from title

phenotypic heterogeneity

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1710267%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

author name string

K M Gibson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1710267%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

W G Sherwood

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1710267%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

G F Hoffman

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1710267%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

I Dianzani

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1710267%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

R B Schutgens

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1710267%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

P G Barth

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1710267%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

U Weismann

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1710267%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

C Bachmann

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1710267%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

P Schrynemackers-Pitance

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1710267%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

language of work or name

English

0 references

publication date

1 June 1991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1710267%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Pediatrics

17 September 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1710267%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

volume

118

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1710267%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

issue

6

1 reference

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17 September 2019

page(s)

885-890

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1710267%20AND%20SRC:MED&resulttype=core&format=json

3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal

17 September 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982199-7

Inherited 3-methylglutaconic aciduria in two brothers—Another defect of leucine metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982199-7

Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982199-7

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982199-7

3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982199-7

Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982199-7

Mevalonic aciduria: pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982199-7

3-Methylglutaconic aciduria: neonatal onset with lactic acidosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982199-7

3-Methylglutaconic aciduria with persistent metabolic acidosis and 'uncoupling episodes'

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982199-7

Dilated cardiomyopathy with neutropenia, short stature, and abnormal carnitine metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982199-7

Cardiac manifestations in disorders of fat and carnitine metabolism in infancy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982199-7

Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2805%2982199-7

10.1016/S0022-3476(05)82199-7

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1710267%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

1 reference