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- W2014314171 abstract "Geleophysic dysplasia (GD) is a rare, recessively inherited lysosomal storage disorder of unknown origin with a progressive course. A 9-year-old Turkish boy born to consanguineous parents with findings typical of GD is reported. Cardiac abnormalities included mitral and aortic stenosis with aortic insufficiency. There was persistent hypo-uricacidaemia, severe pulmonary hypertension and tricuspid insufficiency. He required aortic and mitral valve replacement but, unfortunately, died of a severe pulmonary infection in the post-operative period. The condition has to be differentiated from lysosomal storage disorders such as mucopolysaccharidosis." @default.
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- W2014314171 date "2008-06-01" @default.
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- W2014314171 title "Clinical and morphological phenotype of geleophysic dysplasia" @default.
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- W2014314171 doi "https://doi.org/10.1179/146532808x302206" @default.
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