A novel mutation of δ-aminolaevulinate dehydratase in a healthy child with 12% erythrocyte enzyme activity
Open Access
- 1 September 1999
- journal article
- case report
- Published by Wiley in British Journal of Haematology
- Vol. 106 (4) , 931-937
- https://doi.org/10.1046/j.1365-2141.1999.01647.x
Abstract
No abstract availableKeywords
This publication has 19 references indexed in Scilit:
- δ-aminolevulinic acid dehydrase (porphobilinogen synthase) in two families with inherited enzyme deficiencyClinical Genetics, 2008
- X-ray structure of 5-aminolaevulinate dehydratase, a hybrid aldolaseNature Structural & Molecular Biology, 1997
- Crystallization of 5‐aminolaevulinic acid dehydratase from Escherichia coli and Saccharomyces cerevisiae and preliminary X‐ray characterization of the crystalsProtein Science, 1997
- Neonatal screen for hereditary tyrosinaemia type IThe Lancet, 1992
- Cloning and expression of the defective genes from a patient with delta-aminolevulinate dehydratase porphyria.Journal of Clinical Investigation, 1992
- Message amplification phenotyping of an inherited δ-aminolevulinate dehydratase deficiency in a family with acute hepatic porphyriaBiochemical and Biophysical Research Communications, 1990
- Reduced synthesis of 5-aminolevulinate dehydratase in styrene-treated ratsBiochimica et Biophysica Acta (BBA) - Gene Structure and Expression, 1986
- delta-Aminolevulinate dehydratase in human erythroleukemia cells: an immunologically distinct enzymeBlood, 1985
- Inhibition of δ-aminolevulinate dehydratase in trichloroethylene-exposed rats, and the effects on heme regulationBiochimica et Biophysica Acta (BBA) - General Subjects, 1984
- Isolation of biologically active ribonucleic acid from sources enriched in ribonucleaseBiochemistry, 1979