Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism-Reference-Cited by-同舟云学术

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Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism

Published:1983-09 Issue:1 Volume:133 Page:33-42
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Gibson Kenneth M.,Sweetman Lawrence,Nyhan William L.,Jakobs Cornells,Rating Dietz,Siemes Hartmut,Hanefeld Folker

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference12 articles.

1. Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism;Jakobs;Clin Chim Acta,1981

2. Separation of leukocytes from blood and bone marrow;Boyum;Scand J Clin Lab Invest,1968

3. 4-Aminobutyrate:2-oxoglutarate aminotransferase in blood platelets;White;Science,1979

4. Deficiency of propionyl-CoA carboxylase and methylcrotonyl-CoA carboxylase in a patient with methylcrotonylglycinuria;Weyler;Clin Chim Acta,1977

5. Protein measurement with the Folin phenol reagent;Lowry;J Biol Chem,1951

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1. Deficient brain GABA metabolism leads to widespread impairments of astrocyte and oligodendrocyte function;Glia;2024-06-20

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

3. Functional Characterization of a Spectrum of Genetic Variants in a Family with Succinic Semialdehyde Dehydrogenase Deficiency;International Journal of Molecular Sciences;2024-05-11

4. Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency;Molecular Genetics and Metabolism;2024-05

5. 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

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