Intermittent Acute Porphyria — Demonstration of a Genetic Defect in Porphobilinogen Metabolism
- 15 June 1972
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 286 (24), 1277-1282
- https://doi.org/10.1056/nejm197206152862401
Abstract
In a family with intermittent acute porphyria (IAP) five affected members were found to have decreased erythrocyte uroporphyrinogen I (URO)-synthetase activity, when compared to unaffected relatives or normal controls.Keywords
This publication has 25 references indexed in Scilit:
- HEPATIC δ-AMINOLÆVULINIC ACID SYNTHETASE IN AN ATTACK OF HEREDITARY COPROPORPHYRIA AND DURING REMISSIONThe Lancet, 1971
- Biochemical Defects in Two Types of Human Hepatic PorphyriaNew England Journal of Medicine, 1970
- ACUTE INTERMITTENT PORPHYRIABrain, 1970
- ACUTE INTERMITTENT PORPHYRIAMedicine, 1970
- Zur biochemischen Pathogenese der Porphyria acuta intermittensKlinische Wochenschrift, 1969
- Heme and methemoglobin: Naturally occurring repressors of microsomal cytochromeBiochemical and Biophysical Research Communications, 1968
- Activity of Amino-laevulinic Acid Synthetase in Normal and Porphyric Human LiversNature, 1966
- The determination of aminoketones in biological fluidsAnalytical Biochemistry, 1966
- The Problem of Porphyria — Some Facts and QuestionsNew England Journal of Medicine, 1960
- Determination of Porphyrins in Biological MaterialsPublished by Wiley ,1960