A Southern Italian family with Hunter's syndrome is described. The disease has a sex linked transmission. Three patients and their nearest relatives have been genetically, clinically and biologically examined. The estimation of urinary mucopolysaccharides, using the Calatroni's method, shows a marked mucopolysacchariduria in patients and an excretion of mucopolysaccharides that is on the higher normal levels in the heterozygous mothers. It is a clinical and genetic study that is preliminary to a complete report of the acid mucopolysaccharide metabolism in the patients and in their relatives.
Carlomagno, S., Federico, A., Pinto, L., Balbi, R., Vitolo, G., Guazzi, G.C. (1973). Hunter's disease: study of a family from the plain of Paestum [MALLATIA DI HUNTER: STUDIO DI UNA FAMIGLIA DELLA PIANA DI PAESTUM]. ACTA NEUROLOGICA, 28(3), 323-349.
Hunter's disease: study of a family from the plain of Paestum [MALLATIA DI HUNTER: STUDIO DI UNA FAMIGLIA DELLA PIANA DI PAESTUM]
Federico, A.;
1973-01-01
Abstract
A Southern Italian family with Hunter's syndrome is described. The disease has a sex linked transmission. Three patients and their nearest relatives have been genetically, clinically and biologically examined. The estimation of urinary mucopolysaccharides, using the Calatroni's method, shows a marked mucopolysacchariduria in patients and an excretion of mucopolysaccharides that is on the higher normal levels in the heterozygous mothers. It is a clinical and genetic study that is preliminary to a complete report of the acid mucopolysaccharide metabolism in the patients and in their relatives.
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
https://hdl.handle.net/11365/27345
Attenzione
Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo