4-Hydroxybutyric aciduria: Application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts-Reference-Cited by-同舟云学术

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

Published:1991-02 Issue:2-3 Volume:196 Page:219-221
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Gibson K.Michael,Lee Carol F.,Chambliss Ken L.,Kamali Vafa,Francois Baudouin,Jaeken Jaak,Jakobs Cornelis

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference9 articles.

1. Oxidation of [U-14C]succinic semialdehyde in cultured human lymphoblasts: measurement of residual succinic semialdehyde dehydrogenase activity in 11 patients with 4-hydroxybutyric aciduria;Pattarelli;Pediatr Res,1988

2. Properties of succinic semialdehyde dehydrogenase in cultured human lymphoblasts;Gibson;J Neurogenet,1985

3. Enzymatic preparation of radiolabeled succinic semialdehyde;Gibson;Anal Biochem,1983

4. Purification and properties of rat brain succinic semialdehyde dehydrogenase;Cash;Biochimie,1977

5. 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new cases;Gibson;Clin Chem,1990

Cited by 52 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis;Frontiers in Genetics;2024-06-19

2. Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder;Journal of Neurodevelopmental Disorders;2024-04-24

3. Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1;International Journal of Molecular Sciences;2020-11-13

4. Novel ALDH5A1 variants and genotype;Neurology;2020-09-04

5. A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog;Genes;2020-09-02