(Q47757861)

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Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).

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scholarly article

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Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686370

Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). (English)

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686370

succinic semialdehyde dehydrogenase deficiency

0 references

3

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686370

author name string

K M Gibson

1

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686370

L Sweetman

2

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686370

A Pijackova

4

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686370

A Tscharre

5

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686370

A Cortez

6

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686370

F Eyskens

7

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686370

C Jakobs

8

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686370

M Duran

9

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686370

B T Poll-The

10

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Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686370

publication date

1 June 1998

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Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686370

Journal of Inherited Metabolic Disease

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Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686370

21

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Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686370

3

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686370

255-261

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686370

https://scigraph.springernature.com/pub.10.1023/a:1005368106563

0 references

The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new patient with 4-hydroxybutyric aciduria, a possible defect of 4-aminobutyrate metabolism

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and quantitation of 1,4-butanediol in mammalian tissues: an alternative biosynthetic pathway for gamma-hydroxybutyric acid.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzymatic and immunologic identification of succinic semialdehyde dehydrogenase in rat and human neural and nonneural tissues

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oxidation of [U-14C]succinic semialdehyde in cultured human lymphoblasts: measurement of residual succinic semialdehyde dehydrogenase activity in 11 patients with 4-hydroxybutyric aciduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Stable isotope dilution analysis of GABA in CSF using simple solvent extraction and electron-capture negative-ion mass fragmentography.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/9686370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human succinic semialdehyde dehydrogenase. Molecular cloning and chromosomal localization

1 reference

https://pubmed.ncbi.nlm.nih.gov/9686370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human Succinic Semialdehyde Dehydrogenase

1 reference

https://api.crossref.org/works/10.1023%2FA%3A1005368106563

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1023/A:1005368106563

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686370

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/9686370

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