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Biomedical subjects

R Frezzotti

Publications and source records attributed to R Frezzotti.

At least 37 records · Page 2Linked to original sources
PubMed1985

Etiology of congenital glaucoma. Genetic and extragenetic factors.

Congenital glaucoma (simple, associated and secondary) has been studied for the frequency of mesodermal anomalies and malformations (skeletal changes, congenital heart diseases, neurological alterations). But congenital glaucoma is not due solely to genetic factors: it is more likely that most cases result from interaction between genetic predisposition and a combination of environmental causes.

Congenital Abnormalities↗
PubMed1977

Familial tyrosinaemia with eye and skin lesions. Presentation of two cases.

Two cases of tyrosinaemia with eye and skin lesions typical of the Richner-Hanhart syndrome are described. The patients are a 29- and 26-year-old brother and sister. They do not show neurological abnormalities or mental retardation. Parents are not consanguineous and family history is negative for similar conditions. The diagnosis of type II tyrosinaemia was based upon an increase of blood tyrosine (14-16mg/100 ml), tyrosinuria and absence of liver and kidney abnormalities. The treatment with a low tyrosine phenylalanine diet has resulted in a disappearence of the ocular manifestations while the cutaneous lesions are much improved.

Adult↗