Increased Cystine in Leukocytes from Individuals Homozygous and Heterozygous for Cystinosis
- 15 September 1967
- journal article
- research article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 157 (3794) , 1321-1322
- https://doi.org/10.1126/science.157.3794.1321
Abstract
In patients with cystinosis, the concentration of free cystine in leukocytes was 80 times greater than normal, and six times the normal content for their parents. This is the first demonstration of an abnormality in heterozygotes for this rare inherited disease of childhood. Three-quarters of the cystine was recovered in the granular fraction of cystinotic leukocytes.This publication has 12 references indexed in Scilit:
- CystinosisThe American Journal of Medicine, 1968
- Intestinal Transport of Cystine and Cysteine in Man: Evidence for Separate Mechanisms*Journal of Clinical Investigation, 1967
- Hemodialysis in a Patient With CystinosisAmerican Journal of Diseases of Children, 1966
- Separation of cystine, penicillamine disulfide and cysteine-penicillamine mixed disulfide by automatic amino acid analysisAnalytical Biochemistry, 1966
- Increased sensitivity of accelerated amino acid ion-exchange chromatographyAnalytical Biochemistry, 1965
- Transport of Neutral and Dibasic Amino Acids by Human Leukocytes: Absence of Defect in Cystinuria*Journal of Clinical Investigation, 1965
- Demonstration of Cystine Crystals in Peripheral White Blood Cells in a Patient with CystinosisNew England Journal of Medicine, 1960
- The de Toni-Fanconi Syndrome with CystinosisA.M.A. Journal of Diseases of Children, 1958
- The Fanconi syndromeJournal of Chronic Diseases, 1958
- PREFACEActa Paediatrica, 1952