Succinic semialdehyde dehydrogenase deficiency: low excretion of metabolites in a neonate
Author:
Affiliation:
1. Department of Clinical Biochemistry; Parkville Victoria 3052 Australia
2. ; Murdoch Institute; Royal Children's Hospital; Parkville Victoria 3052 Australia
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005353305705/fullpdf
Reference8 articles.
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2. Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: evidence of alpha-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial beta-oxidation;Brown;J Inher Metab Dis,1987
3. Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria;Gibson;Biomed Environ Mass Spėctrom,1990
4. Succinic semialdehyde dehydrogenase deficiency - a further case;Haan;J Inher Metab Dis,1985
5. The first adult case with 4-hydroxybutyric aciduria;Jakobs;J Inher Metab Dis,1990
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2. Preoperative Dialysis for Liver Transplantation in Methylmalonic Acidemia;Therapeutic Apheresis and Dialysis;2011-09-22
3. Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (γ-hydroxybutyric aciduria);Developmental Medicine & Child Neurology;2007-02-13
4. Succinic semialdehyde dehydrogenase deficiency (SSADH) (4-hydroxybutyric aciduria, γ-hydroxybutyric aciduria);European Journal of Paediatric Neurology;2004-09
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