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Síndrome de osteoporosis-pseudoglioma: A propósito de un caso pediátrico de osteoporosis primariaOsteoporosis-pseudoglioma Syndrome: A pediatric case of primary osteoporosis
(Sociedad Argentina de Pediatría, 2020-06)
La osteoporosis es un trastorno para tener en cuenta en niños con patologías crónicas graves o con algunas enfermedades genéticas que predisponen al incremento de la fragilidad ósea. La osteoporosis primaria es una entidad ...
Three years follow-up of pamidronate therapy in two brothers with osteoporosis-pseudoglioma syndrome (OPPG) carrying an LRP5 mutation
(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 ...
A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome
(Springer, 2007-07-01)
Genetic Analysis of Lrp5 Function in Osteoblast Progenitors
(Springer, 2010-05-01)
The low-density lipoprotein receptor-related protein (Lrp)-5 regulates osteoblast proliferation and bone formation through its expression in duodenum by modifying the gut serotonin-bone endocrine axis. However, its direct ...
Avaliação da resposta à teriparida em pacientes portadores de osteoporose pseudoglioma
(Universidade Federal de São Paulo (UNIFESP), 2011-11-24)
INTRODUÇÃO: Osteoporose Pseudoglioma (OPPG) é uma doença rara, caracterizada por osteoporose grave de início juvenil, associada a múltiplas fraturas e anormalidades oculares. É causada por uma mutação inativadora no gene ...