Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux-Lamy phenotype.

AUTOR(ES)
RESUMO

A mildly affected Maroteaux-Lamy patient is described. Electrophoretic separation of acid mucopolysaccharides (MPS) in the urine showed an increased excretion of dermatan sulphate in spite of a normal total excretion of MPS.

Documentos Relacionados