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Biomedical subjects

F Mollica

Publications and source records attributed to F Mollica.

At least 109 records · Page 6Linked to original sources
PubMed1975

Asymptomatic type II hyperprolinaemia associated with hyperglycinaemia in three sibs.

Three clinically normal sibs were discovered to have type II hyperprolinaemia in a routine serum amino acid screening programme in Sicily. In addition to the basic biochemical features of type II hyperprolinaemia, all 3 children had marked hyperglycinaemia, whereas their parents had both normal blood proline and glycine concentrations. Clinical normality in individuals with hyperprolinaemia may suggest that these two metabolic disorders (types I and II) are benign entities. Furthermore, the absence of clinical abnormality in these sibs, despite the presence of marked hyperprolinaemia and hyperglycinaemia, may suggest that neither of these findings alone causes brain damage. The hyperglycinaemia in these sibs is unexplained and is an unusual if not unique finding in association with hyperprolinaemia.

Adolescent↗
PubMed1975

[Congenital hereditary corneal dystrophy associated with various extraoculary anomalies].

Two subjects (brother and sister), children of consanguineous parents, showed a typical congenital corneal dystrophy associated with mental retardation and a bilateral malformation of the little finger. One of them, a boy of 10, was fat and showed a hearing loss for high tones. His corneal opacity diminished during 7 years observation. Seeing that the affected tissues were of mesenchymal origin, the authors conclude that the syndrome was mesodermal.

Child↗