Ontology highlight
ABSTRACT:
SUBMITTER: Lambert AS
PROVIDER: S-EPMC5658100 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
Lambert Anne-Sophie AS Rothenbuhler Anya A Charles Perrine P Brailly-Tabard Sylvie S Trabado Séverine S Célestin Elisabeth E Durand Emmanuel E Fontaine Isabelle I Miladi Lotfi L Wicart Philippe P Bahi-Buisson Nadia N Linglart Agnès A
PloS one 20171026 10
<h4>Background</h4>Classic Rett Syndrome (RS) is a disabling condition mainly caused by MECP2 mutations. Girls with RS are at risk of developing bone fragility and fractures at a young age which results in pain and may seriously impair quality of life.<h4>Objective</h4>To retrospectively assess the safety and efficacy of IV bisphosphonates on fracture, bone mineral density (BMD) and bone markers in RS girls with bone fragility.<h4>Methods</h4>RS girls received either IV pamidronate (n = 19) or I ...[more]