First-trimester prenatal diagnosis of Sanfilippo C disease |
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| Authors: | P di Natale N Pannone G D'Argenio R Gattit R Ricci C Lombardo |
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| Institution: | 1. Istituto di Biochimica Cellulare e Molecolare, II Medical School, University of Naples, Italy;2. Third department of Pediatrics. Istituto G. Gaslini, Genova, Italy |
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| Abstract: | At 10 weeks' gestation, chorionic villus biopsy was obtained from a woman at risk for Sanfilippo type C disease. Acetyl-CoA: α-glucosaminide N-acetyltransferase activity was markedly deficient. The pregnancy was terminated at 12 weeks' gestation and follow-up study on fetal fibroblasts confirmed the diagnosis. |
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| Keywords: | Sanfilippo C syndrome Mucopolysaccharidosis III C Chorionic vilii Prenatal diagnosis |
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