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Sbubber, E.K.; Abdul-Rahman, M.H.; Sultan, A.F.; Hamamy, H.A.
Proceedings of the third arab conference on the peaceful uses of atomic energy, vol.a,b1998
Proceedings of the third arab conference on the peaceful uses of atomic energy, vol.a,b1998
AbstractAbstract
[en] Hypoxanthine phosphoribosyl transferase (HPRT) enzyme activity was determined in erythrocytes from 16 children (aged below one year to 11 year) with down s syndrome using 8-C14 Hypoxanthine and radioeleelrophorsis techniques. Significant (P<0.01) reduction in HPRT enzyme activity was seen in D S children compared to that of 18 (age and sex matched) healthy children. Pure 21 - trisomic erythrocytes expressed lower enzyme activity than mosaic cell. Mothers of D S children showed significantly (P<0.01) lower enzyme activity than mothers of normal children . Reduced activity of HPRT enzyme was also observed in PHA-stimulated lymphocytes of DS children and their mothers. These results indicated that deficiency of HPRT in D S patients may contribute to the abnormal purine metabolism associated with the symptomatology of this syndrome
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El-Mashri, S.M. (ed.); Arab Atomic Energy Agency, Tunis (Tunisia); 792 p; Jun 1998; p. 711-723; 3. Arab conference on the peaceful uses of atomic energy; Damascus (Syrian Arab Republic); 9-13 Dec 1998
Record Type
Miscellaneous
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Conference
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AROMATICS, AZAARENES, BETA DECAY RADIOISOTOPES, BETA-MINUS DECAY RADIOISOTOPES, BIOLOGICAL MATERIALS, BLOOD, BODY FLUIDS, CARBON ISOTOPES, CONGENITAL DISEASES, CONGENITAL MALFORMATIONS, DISEASES, EVEN-EVEN NUCLEI, HEREDITARY DISEASES, HETEROCYCLIC COMPOUNDS, HYDROXY COMPOUNDS, ISOTOPES, LIGHT NUCLEI, MALFORMATIONS, MATERIALS, NUCLEI, ORGANIC COMPOUNDS, ORGANIC NITROGEN COMPOUNDS, PATHOLOGICAL CHANGES, PURINES, RADIOISOTOPES, SEPARATION PROCESSES, YEARS LIVING RADIOISOTOPES
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