(Q73134284)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9061565%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Succinic semialdehyde dehydrogenase deficiency: low excretion of metabolites in a neonate (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9061565%20AND%20SRC:MED&resulttype=core&format=json

succinic semialdehyde dehydrogenase deficiency

1 November 2019

main subject

0 references

author

David Thorburn

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9061565%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

author name string

J J Pitt

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9061565%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

R Hawkins

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9061565%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

M Cleary

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9061565%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

M Eggington

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9061565%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

L Warwick

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9061565%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

publication date

1 March 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9061565%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

1 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9061565%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

volume

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9061565%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9061565%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

page(s)

39-42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9061565%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1023/a:1005353305705

1 November 2019

exact match

0 references

cites work

The first adult case with 4-hydroxybutyric aciduria.

1 reference

12 December 2020

Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: evidence of alpha-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial beta-o

1 reference

12 December 2020

Quality assessment of urinary organic acid analysis.

1 reference

12 December 2020

Inherited disorders of GABA metabolism

1 reference

12 December 2020

Succinic semialdehyde dehydrogenase deficiency--a further case.

1 reference

12 December 2020

A fluorimetric assay for succinic semialdehyde dehydrogenase activity suitable for prenatal diagnosis of the enzyme deficiency.

1 reference

12 December 2020

Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria

1 reference

12 December 2020