3‐methylglutaconyl‐coenzyme‐A hydratase deficiency: A new case
- 1 May 1992
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 15 (3) , 363-366
- https://doi.org/10.1007/bf02435977
Abstract
No abstract availableThis publication has 8 references indexed in Scilit:
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- 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEFICIENCY AS DETECTED BY RADIOCHEMICAL ASSAY IN CELL-EXTRACTS BY THIN-LAYER CHROMATOGRAPHY, AND IDENTIFICATION OF 3 NEW CASES1990
- 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new casesClinical Chemistry, 1990
- 3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: A coupled enzyme assay useful for their detectionClinica Chimica Acta; International Journal of Clinical Chemistry, 1989
- Isolated biotin‐resistant 3‐methylcrotonyl‐CoA carboxylase deficiency presenting as a Reye syndrome‐like illnessJournal of Inherited Metabolic Disease, 1989
- A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegiaNeurology, 1989
- 3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normalEuropean Journal of Pediatrics, 1988
- Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria.Journal of Clinical Investigation, 1986