Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)-Reference-Cited by-同舟云学术

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

Published:1998-06 Issue:3 Volume:21 Page:255-261
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Gibson K. M.,Sweetman L.,Kozich V.,Pijackova A.,Tscharre A.,Cortez A.,Eyskens F.,Jakobs C.,Duran M.,Poll-The B. T.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005368106563/fullpdf

Reference12 articles.

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2. Enzymatic and immunologic identification of succinic semialdehyde dehydrogenase in rat and human neural and nonneural tissues;Chambliss;J Neurochem,1995

3. Molecular cloning of the mature NAD+-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology and tissue expression;Chambliss;J Biol Chem,1995

4. A new patient with 4-hydroxybutyric aciduria, a possible defect of 4-aminobutyrate metabolism;Divry;Clin Chim Acta,1983

5. Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological Ñuids and the prenatal diagnosis of 4-hydroxybutyric aciduria;Gibson;Biomed Environ Mass Spectrom,1990

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