Skip navigation
Home
Browse
Communities
& Collections
Browse Items by:
Issue Date
Author
Title
Advisor
Help
Sign on to:
My DSpace
Receive email
updates
Edit Profile
Adelaide Research & Scholarship
Adelaide Research & Scholarship
Search
Search:
All collections
Schools and Disciplines
School of Paediatrics & Reproductive Health
Paediatrics
Paediatrics publications
for
Current filters:
Title
Author
Subject
Date Issued
Advisor
School
Department
Organisation
Equals
Contains
ID
Not Equals
Not Contains
Not ID
Title
Author
Subject
Date Issued
Advisor
School
Department
Organisation
Equals
Contains
ID
Not Equals
Not Contains
Not ID
Title
Author
Subject
Date Issued
Advisor
School
Department
Organisation
Equals
Contains
ID
Not Equals
Not Contains
Not ID
Start a new search
Add filters:
Use filters to refine the search results.
Title
Author
Subject
Date Issued
Advisor
School
Department
Organisation
Equals
Contains
ID
Not Equals
Not Contains
Not ID
Results 1-10 of 13 (Search time: 0.002 seconds).
previous
1
2
next
Item hits:
Preview
Issue Date
Title
Author(s)
1997
Mutations among Italian mucopolysaccharidosis Type I patients
Gatti, R.
;
Di Natale, P.
;
Villani, G.
;
Filocamo, M.
;
Muller, V.
;
Guo, X.H.
;
Nelson, P.
;
Scott, H.
;
Hopwood, J.
2001
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications
Yogalingam, G.
;
Hopwood, J.
1995
The molecular genetics of mucopolysaccharidosis type I : Diagnostic, clinical and biological implications
Scott, H.
;
Bunge, S.
;
Gal, A.
;
Clarke, L.
;
Morris, C.
;
Hopwood, J.
2001
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase
Litjens, T.
;
Hopwood, J.
2004
Identification and molecular characterization of α-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy
Yogalingam, G.
;
Guo, X.
;
Muller, V.
;
Brooks, D.
;
Clements, P.
;
Kakkis, E.
;
Hopwood, J.
1999
Expression and characterization of wild type and mutant recombinant human sulfamidase - Implications for Sanfilippo (mucopolysaccharidosis IIIA) syndrome
Perkins, K.
;
Byers, S.
;
Yogalingam, G.
;
Weber, B.
;
Hopwood, J.
2005
Analysis of normal and mutant iduronate-2-sulphatase conformation
Parkinson-Lawrence, E.
;
Turner, C.
;
Hopwood, J.
;
Brooks, D.
1999
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes
Weber, B.
;
Guo, X.H.
;
Kleijer, W.
;
van de Kamp, J.
;
Poorthuis, B.
;
Hopwood, J.
2003
Prevalence of mucopolysaccharidosis type VI mutations in Siamese cats
Crawley, A.
;
Muntz, F.
;
Haskins, M.
;
Jones, B.
;
Hopwood, J.
1998
Mild feline mucopolysaccharidosis type VI. Identification of an N-acetylgalactosamine-4-sulfatase mutation causing instability and increased specific activity
Yogalingam, G.
;
Hopwood, J.
;
Crawley, A.
;
Anson, D.
Discover
Author
5
Yogalingam, G.
4
Muller, V.
3
Brooks, D.
3
Crawley, A.
3
Weber, B.
2
Bunge, S.
2
Byers, S.
2
Clements, P.
2
Guo, X.H.
2
Kleijer, W.
.
next >
Subject
11
Humans
8
Genotype
7
Animals
4
CHO Cells
4
Cricetinae
4
Fibroblasts
4
Iduronidase
4
Mucopolysaccharidosis I
4
Mucopolysaccharidosis III
4
Mucopolysaccharidosis VI
.
next >
Date issued
1
2005
1
2004
1
2003
3
2001
2
1999
3
1998
1
1997
1
1995