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Results 1-10 of 11 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2005
Atopic disease in childhood
Gold, M.
;
Kemp, A.
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.
2005
Changes in leukocyte subsets: clinical implications for children with chronic renal failure
Nairn, J.
;
Hodge, G.
;
Henning, P.
2005
Sleep-disordered breathing in Prader-Willi syndrome and its association with neurobehavioral abnormalities
O'Donoghue, F.
;
Camfferman, D.
;
Kennedy, J.
;
Martin, A.
;
Couper, T.
;
Lack, L.
;
Lushington, K.
;
McEvoy, R.
2005
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
Jensen, L.
;
Amende, M.
;
Gurok, U.
;
Moser, B.
;
Gimmel, V.
;
Tzschach, A.
;
Janecke, A.
;
Tariverdian, G.
;
Chelly, J.
;
Fryns, J.
;
Van Esch, H.
;
Kleefstra, T.
;
Hamel, B.
;
Moraine, C.
;
Gecz, J.
;
Turner, G.
;
Reinhardt, R.
;
Kalscheuer, V.
;
Ropers, H.
;
Lenzer, S.
2005
Neuropsychological and psychosocial function in children with a history of snoring or behavioral sleep problems
Blunden, S.
;
Lushington, K.
;
Lorenzen, B.
;
Martin, A.
;
Kennedy, J.
2005
Early onset seizures and Rett-like features associated with mutations in CDKL5
Evans, J.
;
Archer, H.
;
Colley, J.
;
Ravn, K.
;
Nielsen, J.
;
Kerr, A.
;
Williams, E.
;
Christodoulou, J.
;
Gecz, J.
;
Jardine, P.
;
Wright, M.
;
Pilz, D.
;
Lazarou, L.
;
Cooper, D.
;
Sampson, J.
;
Butler, R.
;
Whatley, S.
;
Clarke, A.
2005
Enzyme replacement therapy for Gaucher disease in Australia
Goldblatt, J.
;
Szer, J.
;
Fletcher, J.
;
McGill, J.
;
Rowell, J.
;
Wilson, M.
2005
The Hunter-McAlpine syndrome results from duplication 5q35-qter
Hunter, A.
;
DuPont, B.
;
McLaughlin, M.
;
Hinton, L.
;
Baker, E.
;
Ades, L.
;
Haan, E.
;
Schwartz, C.
2005
Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human n-acetylgalactosamine 4-sulfatase
Harmatz, P.
;
Ketteridge, D.
;
Giugliani, R.
;
Guffon, N.
;
Teles, E.
;
Miranda, C.
;
Yu, Z.
;
Swiedler, S.
;
Hopwood, J.
Discover
Author
3
Harmatz, P.
3
Hopwood, J.
3
Swiedler, S.
2
Gecz, J.
2
Giugliani, R.
2
Guffon, N.
2
Kennedy, J.
2
Ketteridge, D.
2
Lushington, K.
2
Martin, A.
.
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Subject
11
Humans
9
Female
8
Adolescent
6
Adult
6
Child, Preschool
4
Infant
3
Glycosaminoglycans
3
Intellectual Disability
3
Middle Aged
3
Mucopolysaccharidosis VI
.
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