Riboflavin-responsive epilepsy in a patient with SER209 variant form of short-chain acyl-CoA dehydrogenase (Q57848283)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564254%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

title

Riboflavin-responsive epilepsy in a patient with SER209 variant form of short-chain acyl-CoA dehydrogenase (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564254%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564254%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

Martin Hrebicek

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564254%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

author name string

S Kmoch

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564254%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

L Ryba

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564254%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

M J Kristensen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564254%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

N Gregersen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564254%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

publication date

1 January 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564254%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

21 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564254%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564254%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564254%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

page(s)

227-229

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564254%20AND%20SRC:MED&resulttype=core&format=json

In vitro effects of valproate and valproate metabolites on mitochondrial oxidations. Relevance of CoA sequestration to the observed inhibitions.

21 October 2019

cites work

1 reference

12 December 2020

Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients

1 reference

12 December 2020

A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts

1 reference

12 December 2020

Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness

1 reference

12 December 2020

Peroxisomal beta-oxidation of palmitoyl-CoA in human liver homogenates and its deficiency in the cerebro-hepato-renal (Zellweger) syndrome

1 reference

12 December 2020

Amino acid polymorphism (Gly209Ser) in the ACADS gene

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00711774

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7564254%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

1 reference