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Results 1-10 of 18 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
1998
Coexistence of Gaucher-Disease Type 1 and Joubert-Syndrome
Van Royen-Kerkhof, A.
;
Pollthe, B.
;
Kleijer, W.
;
van Diggelen, O.
;
Aerts, J.
;
Hopwood, J.
;
Beemer, F.
1996
Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients
Litjens, T.
;
Brooks, D.
;
Peters, C.
;
Gibson, G.
;
Hopwood, J.
1996
Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome
Isbrandt, D.
;
Hopwood, J.
;
von Figura, K.
;
Peters, C.
2000
Saposins A,B,C, and D in plasma of patients with lysosomal storage disorders
Chang, M.
;
Bindloss, C.
;
Grabowski, G.
;
Qi, X.
;
Winchester, B.
;
Hopwood, J.
;
Meikle, P.
1998
Evaluation of the lysosome-associated membrane protein LAMP-2 as a marker for lysosomal storage disorders
Hua, C.
;
Hopwood, J.
;
Carlsson, S.
;
Harris, R.
;
Meikle, P.
1998
Identification of a common mutation (R245h) in Sanfilippo A patients from the Netherlands
Weber, B.
;
Vandekamp, J.
;
Kleijer, W.
;
Guo, X.H.
;
Blanch, L.
;
van Diggelen, O.
;
Wevers, R.
;
Poorthuis, B.
;
Hopwood, J.
2005
Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
Swiedler, S.
;
Beck, M.
;
Bajbouj, M.
;
Giugliani, R.
;
Schwartz, I.
;
Harmatz, P.
;
Wraith, J.
;
Roberts, J.
;
Ketteridge, D.
;
Hopwood, J.
;
Guffon, N.
;
Miranda, C.
;
Teles, E.
;
Berger, K.
;
Piscia-Nichols, C.
2010
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase
Harmatz, P.
;
Yu, Z.
;
Giugliani, R.
;
Schwartz, I.
;
Guffon, N.
;
Teles, E.
;
Miranda, C.
;
Wraith, J.
;
Beck, M.
;
Arash, L.
;
Scarpa, M.
;
Ketteridge, D.
;
Hopwood, J.
;
Plecko, B.
;
Steiner, R.
;
Whitley, C.
;
Kaplan, P.
;
Swiedler, S.
;
Hardy, K.
;
Berger, K.
;
et al.
2004
Cord-blood transplants from unrelated donors in patients with Hurler's Syndrome
Staba, S.
;
Escolar, M.
;
Poe, M.
;
Kim, Y.
;
Martin, P.
;
Szabolcs, P.
;
Allison-Thacker, J.
;
Wood, S.
;
Wenger, D.
;
Rubenstein, P.
;
Hopwood, J.
;
Krivit, W.
;
Kurtzberg, J.
1997
Molecular defects in Sanfilippo syndrome type A
Blanch, L.
;
Weber, B.
;
Guo, X.H.
;
Scott, H.
;
Hopwood, J.
Discover
Author
5
Meikle, P.
4
Brooks, D.
3
Beck, M.
3
Giugliani, R.
3
Guffon, N.
3
Harmatz, P.
3
Ketteridge, D.
3
Miranda, C.
3
Schwartz, I.
3
Swiedler, S.
.
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Subject
12
Adolescent
12
Child
10
Adult
9
Infant
7
Female
6
Male
4
Hydrolases
4
Middle Aged
4
Mucopolysaccharidosis III
4
Mucopolysaccharidosis VI
.
next >
Date issued
11
2000 - 2010
7
1996 - 1999