(Q51539279)

English

Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New Caledonia.

scientific article published in July 1997

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scholarly article

1 reference

Europe PubMed Central

6 April 2018

http://europepmc.org/abstract/MED/9266358

Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New Caledonia. (English)

1 reference

Europe PubMed Central

6 April 2018

http://europepmc.org/abstract/MED/9266358

succinic semialdehyde dehydrogenase deficiency

0 references

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

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author name string

K M Gibson

1

1 reference

Europe PubMed Central

6 April 2018

http://europepmc.org/abstract/MED/9266358

A E Doskey

2

1 reference

Europe PubMed Central

6 April 2018

http://europepmc.org/abstract/MED/9266358

D Rabier

3

1 reference

Europe PubMed Central

6 April 2018

http://europepmc.org/abstract/MED/9266358

C Jakobs

4

1 reference

Europe PubMed Central

6 April 2018

http://europepmc.org/abstract/MED/9266358

C Morlat

5

1 reference

Europe PubMed Central

6 April 2018

http://europepmc.org/abstract/MED/9266358

publication date

1 July 1997

1 reference

Europe PubMed Central

6 April 2018

http://europepmc.org/abstract/MED/9266358

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

6 April 2018

http://europepmc.org/abstract/MED/9266358

20

1 reference

Europe PubMed Central

6 April 2018

http://europepmc.org/abstract/MED/9266358

3

1 reference

Europe PubMed Central

6 April 2018

http://europepmc.org/abstract/MED/9266358

370-374

1 reference

Europe PubMed Central

6 April 2018

http://europepmc.org/abstract/MED/9266358

https://scigraph.springernature.com/pub.10.1023/a:1005334129412

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The first adult case with 4-hydroxybutyric aciduria.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266358

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/9266358

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266358

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (gamma-vinyl-GABA)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266358

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited disorders of GABA metabolism

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266358

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/9266358

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

4-Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9266358

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1023/A:1005334129412

1 reference

Europe PubMed Central

6 April 2018

http://europepmc.org/abstract/MED/9266358

Dimensions Publication ID

0 references

1 reference

Europe PubMed Central

6 April 2018

http://europepmc.org/abstract/MED/9266358

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