Article
Lipoid proteinosis (Urbach-Wiethe disease).
Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde - 1 Jan 1999
Costagliola C, Verolino M, Landolfo P, Winkler N R, Mastropasqua L, Landolfo V
Abstract excerpt
The aim of this study has been to assess the clinical presentation and biochemical profile of lipoid proteinosis within a defined pedigree. Glycoprotein analysis was compared to normal values in an attempt to define a biochemical phenotype. Six affected family members were identified with variable degrees of disease expression. The most likely mode of inheritance is autosomal recessive due to consanguinity....
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