Chang-Woo Jung

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BACKGROUND/AIMS The objective of this study was to evaluate the efficacy of recombinant human growth hormone (rhGH) therapy and the influence of genotype on the response to rhGH therapy in children with Noonan syndrome (NS). METHODS 14 male and 4 female subjects with NS with short stature, whose height was < 3rd percentile, were included. The rhGH was(More)
PURPOSE Gaucher disease is caused by a β-glucocerebrosidase (GBA) deficiency. The aim of this study is to investigate the clinical and genetic characteristics according to subtypes of Gaucher disease in the Korean population. METHODS Clinical findings at diagnosis, GBA mutations, and clinical courses were reviewed in 20 patients diagnosed with Gaucher(More)
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