Global ETD Search

21	The molecular genetics of mucopolysaccharidosis type VI / by Tom Litjens. Litjens, Tom January 1994 (has links) Bibliography: p. 252-281. / xiii, 281, [110] p., [11] leaves of plates : ill. ; 35 cm. / Title page, contents and abstract only. The complete thesis in print form is available from the University Library. / Identifies and analyses the two 4S mutant alleles in selected patients, in order to test the hypothesis that the mutant genotype could be correlated with the clinical and biochemical phenotype. / Thesis (Ph.D.)--University of Adelaide, Faculty of Medicine, 1995? 612.0157/82 20
22	Human lysosomal sulphate transport / Martin David Lewis. Lewis, Martin D. January 2001 (has links) Addendum inserted at back / Includes bibliographical references (leaves 266-287). / xxiv, 289 leaves, [2] leaves of plates : ill. ; 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, 2001 Lysosomes Enzymes Synthesis. Enzyme activation. Metabolism, Inborn errors of. Glycosaminoglycans Metabolism. Lysosomal storage diseases.
23	Characterisation of osteoblast function in a feline model of mucopolysaccharidosis type VI / by Krystyna Zarrinkalam. Zarrinkalam, Krystyna January 2001 (has links) Addenda slip inserted in back. / Includes bibliographical references (leaves 178-231). / xiv, 234, [19] leaves, [56] leaves of plates : ill. (chiefly col.) ; 30 cm. / Title page, contents and abstract only. The complete thesis in print form is available from the University Library. / To further the understanding of the molecular mechanisms that contribute to the skeletal pathology of mucopolysaccharidosis type VI and to investigate the production of organic matrix by mucopolysaccharidosis VI osteoblasts / Thesis (Ph.D.)--University of Adelaide, Dept. of Paediatrics, 2001 Bone cells Metabolism. Lysosomal storage diseases. Cats as laboratory animals.
24	Direct profiling of multiple enzymes in human cell lysates by affinity chromatography/electrospray ionization mass spectrometry : application to clinical enzymology / Gerber, Scott Anthony, January 2001 (has links) Thesis (Ph. D.)--University of Washington, 2001. / Vita. Includes bibliographical references (leaves 132-138).
25	Molecular characterisation of feline MPS VI and evaluation of gene therapy / by Gouri Yogalingam. Yogalingam, Gouri January 1998 (has links) Errata pasted onto back end paper. / Bibliography: p. 187-204. / xvii, 204 p., [11] leaves of plates : ill. (some col.) ; 30 cm. / Title page, contents and abstract only. The complete thesis in print form is available from the University Library. / A naturally occurring feline model for Mucopolysaccharidosis type VI has been used to evaluate various therapy protocols. / Thesis (Ph.D.)--University of Adelaide, Dept. of Paediatrics, 1998 Mucopolysaccharidosis Gene therapy. Cats as laboratory animals.
26	Transcriptional regulation of neu1 expression: Implications for lysosomal storage disease / Champigny, Marc J. Igdoura, Suleiman. January 2005 (has links) Thesis (Ph.D.)--McMaster University, 2005. / Supervisor: Suleiman Igdoura. Includes bibliographical references (leaves 207-240). Also available online.
27	The lysosomal degradation of heparan sulphate : a comparative study of the physical and catalytic properties of the heparan sulphate degradative enzymes / Freeman, Craig. January 1991 (has links) (PDF) Thesis (Ph. D.)--University of Adelaide, Dept. of Paediatrics, 1991. / Copies of author's previously published articles inserted. Includes bibliographical references.
28	Human lysosomal sulphate transport / Lewis, Martin David. January 2001 (has links) (PDF) Thesis (Ph.D.)-- University of Adelaide, Dept. of Paediatrics, 2001. / Addendum inserted at back. Includes bibliographical references (leaves 266-287).
29	Examination of abnormal dolichol metabolism in infantile Batten Disease caused by palmitoyl protein thioesterase-1 (PPT1) deficiency Cho, Steve Kyungrae. January 2004 (has links) (PDF) Thesis (Ph. D.) -- University of Texas Southwestern Medical Center at Dallas, 2004. / Vita. Bibliography: 112-129.
30	Detection of enzyme deficient genetic diseases by electrospray ionization mass spectrometry / Li, Yijun, January 2004 (has links) Thesis (Ph. D.)--University of Washington, 2004. / Vita. Includes bibliographical references (leaves 152-161).

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