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Biomedical subjects

C Valenti

Publications and source records attributed to C Valenti.

At least 37 records · Page 2Linked to original sources
PubMed1979

Krabbe's disease with unusual clinical and morphological features.

A progressive encephalopathy appeared in two sibs aged 7 and 5 months. The children died at 23 respectively 29 months of age. Autopsy of the second child disclosed a severe demyelination involving the whole brain. Only few globoid cells were identified. Ultrastructural and biochemical investigations confirmed the diagnosis of Krabbe's disease.

Astrocytes↗
PubMed1979

Prenatal diagnosis of beta-thalassaemia by fetal red cell concentration with anti-AB serum.

Prenatal diagnosis by globin chain synthesis analysis on fetal blood samples obtained by placental aspiration was performed in two pregnancies at risk for beta-thalassaemia. Since both fathers had blood group AB, and both mothers had group O, fetal red cell concentration from maternal-fetal mixtures was obtained with the aid of anti-AB serum. With this approach it was possible to carry out globin chain synthesis analysis with very small amounts of fetal blood. Heterozygous and normal genotypes were ascertained and confirmed after birth.

ABO Blood-Group System↗
PubMed1977

A new translocation involving chromosomes no. 5 and no. 12 t(5;12) (5q15;12p13).

A new case of translocation between chromosomes No. 5 and No. 12 is described. The translocation t(5;12) (5q15;12p13) is apparently balanced and was found in a child aged 3 1/2 years who was affected with severe psychomotor retardation. On the basis of the clinical picture it is suggested that the phenotype could be not dependent on the chromosomal alteration.

Child, Preschool↗