Browsing by Subject "osteoporosis-pseudoglioma"

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Three years follow-up of pamidronate therapy in two brothers with osteoporosis-pseudoglioma syndrome (OPPG) carrying an LRP5 mutation

Barros, Elizabete Ribeiro [UNIFESP]; Silva, Magnus R. Dias da [UNIFESP]; Kunii, Ilda S. [UNIFESP]; Lazaretti-Castro, Marise [UNIFESP] (Freund Publishing House Ltd, 2008-08-01)

Osteoporosis-pseudoglioma (OPPG) is a rare syndrome characterized by severe osteoporosis and ocular defects caused by homozygotic inactivation mutations in the LRP5 gene. Bisphosphonate has been demonstrated to improve ...