Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/32989
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Type: Journal article
Title: Prenatal diagnosis of Sanfilippo syndrome
Author: Hopwood, J.
Citation: Prenatal Diagnosis, 2005; 25(2):148-150
Publisher: John Wiley & Sons Ltd
Issue Date: 2005
ISSN: 0197-3851
1097-0223
Abstract: The focus of this communication is to comment on the relative importance of enzymatic and molecular genetics, potential false results and future options for prenatal diagnosis of Sanfilippo syndrome (mucopolysaccharidosis (MPS) types IIIA, IIIB, IIIC and IIID). During the provision of an international service over the past 25 years, our department has identified 7 affected out of 49 MPS III prenatal assessments. During this period, the technology used by us and others (Thompson et al., 1993; Kleijer et al., 1996) in these diagnoses has undergone considerable development in evolution. Our policy to maintain a close relationship between the provision of a diagnostic service and research to achieve an overall goal of early diagnosis and effective therapy have progressed both activities.
Keywords: Sanfilippo syndrome
prenatal diagnosis
mucopolysaccharidosis type III
Description: Article first published online: 11 FEB 2005
Rights: © 2005 John Wiley & Sons, Ltd.
DOI: 10.1002/pd.1094
Appears in Collections:Aurora harvest 6
Paediatrics publications

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