Prenatal diagnosis of Sanfilippo syndrome

John J. Hopwood

doi:10.1002/pd.1094

Prenatal diagnosis of Sanfilippo syndrome

John J. Hopwood

Hopwood Centre For Neurobiology

Research output: Contribution to journal › Review article

10 Citations (Scopus)

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.

Language	English
Pages	148-150
Number of pages	3
Journal	Prenatal Diagnosis
Volume	25
Issue number	2
DOIs	10.1002/pd.1094
Publication status	Published - 1 Feb 2005

Keywords

Mucopolysaccharidosis type III
Prenatal diagnosis
Sanfilippo syndrome

ASJC Scopus subject areas

Obstetrics and Gynaecology
Genetics(clinical)

Cite this

Hopwood, J. J. (2005). Prenatal diagnosis of Sanfilippo syndrome. Prenatal Diagnosis, 25(2), 148-150. https://doi.org/10.1002/pd.1094

Hopwood, John J. / Prenatal diagnosis of Sanfilippo syndrome. In: Prenatal Diagnosis. 2005 ; Vol. 25, No. 2. pp. 148-150.

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Hopwood, JJ 2005, 'Prenatal diagnosis of Sanfilippo syndrome', Prenatal Diagnosis, vol. 25, no. 2, pp. 148-150. https://doi.org/10.1002/pd.1094

Prenatal diagnosis of Sanfilippo syndrome. / Hopwood, John J.

In: Prenatal Diagnosis, Vol. 25, No. 2, 01.02.2005, p. 148-150.

Research output: Contribution to journal › Review article

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