https://scholars.lib.ntu.edu.tw/handle/123456789/194471
標題: | Prenatal Diagnosis and Genetic Counseling of Mucopolysaccharidosis Type Ii (Hunter Syndrome) | 作者: | CHEN, CHIH-PING LIN, SHUAN-PEI TZEN, CHIN-YUAN HWU, WUH-LIANG CHERN, SCHU-RERN WANG, WAY-SEEN |
關鍵字: | Hunter syndrome;mucopolysaccharide deposition;Mucopolysaccharidosis type II;prenatal diagnosis;therapy | 公開日期: | 2007 | 卷: | v.18 | 期: | n.1 | 起(迄)頁: | 49-56 | 來源出版物: | GENETIC COUNSELING | 摘要: | We present prenatal diagnosis of mucopolysaccharidosis type II (MPS II) ( Hunter syndrome) and demonstrate marked mucopolysaccharide deposition in multiple vital organs in a 22-gestational-week affected fetus. Level II ultrasound showed cardiomegaly and hepatomegaly. Histological examinations of the fetal vital organs manifested marked mucopolysaccharide deposition . We suggest that any therapeutic approach and counseling for prenatally diagnosed MPS II should consider the early signs of in utero marked mucopolysaccharide storage. |
URI: | http://ntur.lib.ntu.edu.tw//handle/246246/88661 |
顯示於: | 醫學系 |
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