Glutaric aciduria type I: Unusual biochemical presentation
- 31 July 1992
- journal article
- case report
- Published by Elsevier BV in The Journal of Pediatrics
- Vol. 121 (1), 83-86
- https://doi.org/10.1016/s0022-3476(05)82548-x
Abstract
No abstract availableKeywords
This publication has 14 references indexed in Scilit:
- Macrocephaly: an important indication for organic acid analysisJournal of Inherited Metabolic Disease, 1991
- Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/ mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissueAnalytical Biochemistry, 1989
- Glutaric aciduria type I: Enzymatic and neuroradiologic investigations of two kindredsThe Journal of Pediatrics, 1989
- A case of glutaric acidemia type I: Effect of riboflavin and carnitineThe Journal of Pediatrics, 1988
- CT appearance of low attenuation areas in basal ganglia in childhood: Report of 23 casesComputerized Radiology, 1987
- An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytesJournal of the Neurological Sciences, 1983
- Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver: application to glutaric aciduria type IClinica Chimica Acta; International Journal of Clinical Chemistry, 1983
- PROGRESSIVE DYSTONIA AND DYSKINESIA IN CHILDHOODActa Paediatrica, 1982
- Glutaric aciduria: Clinical and laboratory findings in two brothersThe Journal of Pediatrics, 1977
- Glutaric aciduria; A “new” disorder of amino acid metabolismBiochemical Medicine, 1975