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Assenza di nucleoside fosfondasi purinica e deficit selettivo grave dei linfociti T

Rosa Maria Corbo — 1979

Atti della Accademia Nazionale dei Lincei. Classe di Scienze Fisiche, Matematiche e Naturali. Rendiconti

We studied a 22 months-old girl with severe selective T-cell deficiency and no measurable purine nucleoside phosphorylase activity in the RBC and granulocytes. No inhibitor was found in the patient's erythrocytes. Her parents are second cousins and their red cells exhibited about half the normal level of NP activity. The identification of heterozygotes within a three generation pedigree confirms that PNP deficiency is inherited as a mendelian autosomal trait and that erythrocytes can be used for...

Differenze nell'attività della fosfatasi acida eritrocitaria tra madri e neonati normali

Ricciotti PalmarinoPaola LucarelliPaola IannettiUgo RubertoRosa Maria Corbo — 1973

Atti della Accademia Nazionale dei Lincei. Classe di Scienze Fisiche, Matematiche e Naturali. Rendiconti

Erythrocyte acid phosphatase activity in red blood cells from newborn babies and their mothers. Erythrocyte acid phosphatase activity in red blood cells of newborn babies is lower compared to the activity found in their mothers. The difference seems to be dependent on the phenotype of acid phosphatase.

Studies on the placental alkaline phosphatase and Phosphoglucomutase (PGM) polymorphisms in the province of Pavia (Italy)

Ricciotti PalmarinoRenato ScacchiRosa Maria CorboEmilio ImparatoPaolo PesandoPaola Lucarelli — 1975

Atti della Accademia Nazionale dei Lincei. Classe di Scienze Fisiche, Matematiche e Naturali. Rendiconti

È stato determinato il fenotipo della fosfatasi alcalina della placenta e della fosfoglucomutasi in un gruppo di soggetti della provincia di Pavia. Le frequenze geniche relative alla fosfoglucomutasi, locus 1, non sono risultate differenti da quelle osservate nelle altre popolazioni italiane, mentre per la fosfatasi alcalina placentare sono state osservate alcune differenze. Sono stati inoltre individuati sei fenotipi rari per la fosfatasi alcalina placentare.

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