Prenatal exclusion of purine nucleoside phosphorylase deficiency
- 1 April 1986
- journal article
- case report
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 145 (1-2) , 51-53
- https://doi.org/10.1007/bf00441852
Abstract
No abstract availableKeywords
This publication has 12 references indexed in Scilit:
- Rapid determination of purine enzyme activity in intact and lysed cells using high-performance liquid chromatography with and without radiolabelled substratesJournal of Chromatography B: Biomedical Sciences and Applications, 1983
- Rapid prenatal diagnosis of adenosine deaminase deficiency and other purine disorders using foetal bloodBioscience Reports, 1983
- Prenatal diagnosis of severe combined immunodeficiencyThe Journal of Pediatrics, 1982
- Prenatal exclusion of severe combined immunodeficiencyArchives of Disease in Childhood, 1982
- GTP depletion and other erythrocyte abnormalities in inherited pnp deficiencyBiochemical Pharmacology, 1982
- Prenatal diagnosis of ataxia telangiectasiaThe Journal of Pediatrics, 1982
- A patient with nucleoside phosphorylase deficiency, selective T-cell deficiency, and autoimmune hemolytic anemiaThe Journal of Pediatrics, 1978
- NUCLEOSIDE-PHOSPHORYLASE DEFICIENCY IN A CHILD WITH SEVERELY DEFECTIVE T-CELL IMMUNITY AND NORMAL B-CELL IMMUNITYThe Lancet, 1975
- ADENOSINE-DEAMINASE DEFICIENCY IN A CHILD DIAGNOSED PRENATALLYThe Lancet, 1975
- Further data on the adenosine deaminase (ADA) polymorphism and a report of a new phenotypeAnnals of Human Genetics, 1969