Absence of increased succinylacetone in the urine of a child with hereditary tyrosinaemia type I
- 1 June 1987
- journal article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 10 (S2) , 323-325
- https://doi.org/10.1007/bf01811440
Abstract
No abstract availableThis publication has 6 references indexed in Scilit:
- Prenatal diagnosis of tyrosinaemia type I by use of stable isotope dilution mass spectrometryEuropean Journal of Pediatrics, 1985
- Deficient Fumarylacetoacetate Fumarylhydrolase Activity in Lymphocytes and Fibroblasts from Patients with Hereditary TyrosinemiaPediatric Research, 1983
- Urinary excretion of deuterated metabolites in patients with tyrosinemia type I after oral loading with deuterated L-tyrosineClinica Chimica Acta; International Journal of Clinical Chemistry, 1983
- Detection of succinylacetone and the use of its measurement in mass screening for hereditary tyrosinemiaClinica Chimica Acta; International Journal of Clinical Chemistry, 1982
- Hereditary tyrosinemia - fumarylacetoacetase deficiencyPediatric Research, 1979