The first adult case with 4‐hydroxybutyric aciduria
- 1 May 1990
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 13 (3), 341-344
- https://doi.org/10.1007/bf01799390
Abstract
No abstract availableThis publication has 9 references indexed in Scilit:
- Stable isotope dilution analysis of 4-hydroxybutyric acid: An accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduriaJournal of Mass Spectrometry, 1990
- Succinic semialdehyde dehydrogenase deficiency associated with combined 4-hydroxybutyric and dicarboxylic acidurias: Potential for clinical misdiagnosis based on urinary organic acid profilingThe Journal of Pediatrics, 1989
- Oxidation of [U-14C]Succinic Semialdehyde in Cultured Human Lymphoblasts: Measurement of Residual Succinic Semialdehyde Dehydrogenase Activity in 11 Patients with 4-Hydroxybutyric AciduriaPediatric Research, 1988
- 4-Hydroxybutyric aciduria: A new inborn error of metabolism. II. Biochemical findingsJournal of Inherited Metabolic Disease, 1984
- 4‐Hydroxybutyric aciduria: A new inborn error of metabolism. I. Clinical reviewJournal of Inherited Metabolic Disease, 1984
- Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolismClinica Chimica Acta; International Journal of Clinical Chemistry, 1983
- Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolismClinica Chimica Acta; International Journal of Clinical Chemistry, 1981