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Review 1. Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance.

Authors: Kyung-Jin Kim; Phillip L Pearl; Kimmo Jensen; O Carter Snead; Patrizia Malaspina; Cornelis Jakobs; K Michael Gibson
Journal: Antioxid Redox Signal Date: 2011-04-10 Impact factor: 8.401

Review 2. Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.

Authors: Kara R Vogel; Phillip L Pearl; William H Theodore; Robert C McCarter; Cornelis Jakobs; K Michael Gibson
Journal: J Inherit Metab Dis Date: 2012-06-28 Impact factor: 4.982

Review 3. Review: Normal and abnormal central nervous system GABA metabolism in childhood.

Authors: J Jaeken; P Casaer; K D Haegele; P J Schechter
Journal: J Inherit Metab Dis Date: 1990 Impact factor: 4.982

4. The first adult case with 4-hydroxybutyric aciduria.

Authors: C Jakobs; L M Smit; J Kneer; T Michael; K M Gibson
Journal: J Inherit Metab Dis Date: 1990 Impact factor: 4.982

5. Determination of the GABA analogue succinic semialdehyde in urine and cerebrospinal fluid by dinitrophenylhydrazine derivatization and liquid chromatography-tandem mass spectrometry: application to SSADH deficiency.

Authors: E A Struys; E E W Jansen; K M Gibson; C Jakobs
Journal: J Inherit Metab Dis Date: 2005 Impact factor: 4.982

Review 6. An overview of gamma-hydroxybutyrate catabolism: the role of the cytosolic NADP(+)-dependent oxidoreductase EC 1.1.1.19 and of a mitochondrial hydroxyacid-oxoacid transhydrogenase in the initial, rate-limiting step in this pathway.

Authors: E E Kaufman; T Nelson
Journal: Neurochem Res Date: 1991-09 Impact factor: 3.996

Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism.

Review 1. Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance.

Review 2. Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.

Review 3. Review: Normal and abnormal central nervous system GABA metabolism in childhood.

4. The first adult case with 4-hydroxybutyric aciduria.

5. Determination of the GABA analogue succinic semialdehyde in urine and cerebrospinal fluid by dinitrophenylhydrazine derivatization and liquid chromatography-tandem mass spectrometry: application to SSADH deficiency.

Review 6. An overview of gamma-hydroxybutyrate catabolism: the role of the cytosolic NADP(+)-dependent oxidoreductase EC 1.1.1.19 and of a mitochondrial hydroxyacid-oxoacid transhydrogenase in the initial, rate-limiting step in this pathway.

7. Succinic semialdehyde dehydrogenase deficiency--a further case.

8. Symptoms and signs in organic acidurias.

9. Prenatal diagnosis of the organic acidurias.

10. Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.