"February, 2003" / Addendum inside front cover. / Bibliograpy: leaves 200-219. / xiv, 219, xiv leaves : ill. (some col.), plates (some col.) ; 30 cm. / Title page, contents and abstract only. The complete thesis in print form is available from the University Library. / Thesis (Ph.D.)--University of Adelaide, Dept. of Paediatrics, 2003

Thesis (M.A.)--York University, 2005. Graduate Programme in Psychology. / Typescript. Includes bibliographical references (leaves 103-116). Also available on the Internet. MODE OF ACCESS via web browser by entering the following URL: http://gateway.proquest.com/openurl?url%5Fver=Z39.88-2004&res%5Fdat=xri:pqdiss &rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&rft_dat=xri:pqdiss:MR11798

Thesis (Ph.D.) -- McMaster University, 2002. / Includes bibliographical references (leaves 189-243). Also available via World Wide Web.

Thesis (M.S.)--Rutgers University, 2009. / "Graduate Program in Microbiology and Molecular Genetics." Includes bibliographical references (p. 63-71).

Dissertation (Ph.D.)--Auburn University, 2005. / Abstract. Vita. Includes bibliographic references.

Thesis (Ph.D.) -- University of Adelaide, School of Paediatrics and Reproductive Health, Discipline of Paediatrics, 2007. / "June 2007" Includes Addenda attached to back page. Bibliography: leaves 215-274. Also available in print form.

Niemann-Pick type Cl (NPC1) disease is a neurodegenerative lysosomal storage disorder characterized by the accumulation of multiple lipids in the late endosome/lysosomal system and reduced acidic store calcium levels. Since the lysosomal system is involved in regulating aspects of transition metal ion homeostasis and its intracellular compartmentalization, we have investigated whether there are metal ion metabolism defects and haematological abnormalities in NPC1 disease. We have identified multiple haematological changes, including decreased haematocrit, haemoglobin and mean corpuscular haemoglobin volume in mice.

Addenda page on inside back cover. Bibliography: leaves 153-176. Mucopolysaccharideosis type IIIA (MPS IIIA, Sanfilippo A syndrome) is an autosomal recessive lysosomal storage disease, with a prevalence in Australia of 1 in 114,000. MPS IIIA is caused by a deficiency of the lysosomal enzyme sulphamidase which is needed together with other exohydrolases and a N-acetyltransferase to break down the glycosaminoglycan heparan sulphate to sulphate and monosaccharides. Patients are characterised by severe central nervous systems degeneration together with mild somatic involvement; this disproportionate correlation is unique amongst the mucopolysaccharidoses. Features include severe behavioural disturbances, such as hyperactivity and aggressiveness, coarse hair and mild hepatosplenomegaly. Death is usually in the mid- to late-teenage years. Enzyme replacement therapy by intravenous administration of recombinant human NS (rhNS) has been proposed as a potential therapy for MPS IIIA. This thesis suggests that rhNS, entering the brain in the first few weeks of life, is able to retard the behaviour and learning difficulties in MPS IIIA mice.

Addenda page on inside back cover. / Bibliography: leaves 153-176. / xiii, 176 leaves ; ill. (some col.) ; 30 cm / Title page, contents and abstract only. The complete thesis in print form is available from the University Library. / Mucopolysaccharideosis type IIIA (MPS IIIA, Sanfilippo A syndrome) is an autosomal recessive lysosomal storage disease, with a prevalence in Australia of 1 in 114,000. MPS IIIA is caused by a deficiency of the lysosomal enzyme sulphamidase which is needed together with other exohydrolases and a N-acetyltransferase to break down the glycosaminoglycan heparan sulphate to sulphate and monosaccharides. Patients are characterised by severe central nervous systems degeneration together with mild somatic involvement; this disproportionate correlation is unique amongst the mucopolysaccharidoses. Features include severe behavioural disturbances, such as hyperactivity and aggressiveness, coarse hair and mild hepatosplenomegaly. Death is usually in the mid- to late-teenage years. Enzyme replacement therapy by intravenous administration of recombinant human NS (rhNS) has been proposed as a potential therapy for MPS IIIA. This thesis suggests that rhNS, entering the brain in the first few weeks of life, is able to retard the behaviour and learning difficulties in MPS IIIA mice. / Thesis (Ph.D.)--University of Adelaide, Dept. of Paediatrics, 2003

Erratum sheet pasted on front end-paper. / Bibliography: p. 220-239. / xxi, 239 p. : ill. ; 30 cm. / Title page, contents and abstract only. The complete thesis in print form is available from the University Library. / 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. / Thesis (Ph.D.)--University of Adelaide, Dept. of Paediatrics, 1997?