Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/18869
Type: Thesis
Title: Metachromatic leukodystrophy : the role of non-pathogenic sequence variants in the causation of disease / John Steven Harvey.
Author: Harvey, John Steven
Issue Date: 1996
School/Discipline: Dept. of Paediatrics
Abstract: The objectives of this project are to investigate the development of metachromatic leukodystrophy (MLD) in the patient population referred to the Women's and Children's Hospital to gain further insight into the molecular and biochemical defects which cause disease. This study hypothesises that alleles which cause pseudodeficiencies of arylsulphatase A gene (ASA) may play a role in modifying the course of MLD or may be responsible for the development of the disease.
Dissertation Note: Thesis (Ph.D.)--University of Adelaide, Dept. of Paediatrics, 1997?
Subject: Leukodystrophy, Metachromatic.
Arylsulphatases Deficiency.
Lysosomal storage diseases Diagnosis.
Sulphatases Analysis.
Description: Erratum sheet pasted on front end-paper.
Bibliography: p. 220-239.
xxi, 239 p. : ill. ; 30 cm.
Provenance: This electronic version is made publicly available by the University of Adelaide in accordance with its open access policy for student theses. Copyright in this thesis remains with the author. This thesis may incorporate third party material which has been used by the author pursuant to Fair Dealing exception. If you are the author of this thesis and do not wish it to be made publicly available or If you are the owner of any included third party copyright material you wish to be removed from this electronic version, please complete the take down form located at: http://www.adelaide.edu.au/legals
Appears in Collections:Research Theses

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