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Issue Date
Title
Author(s)
2000
Carbohydrate-deficient glycoprotein syndrome: Beyond the screen
Fletcher, J.
;
Matthijs, G.
;
Jaeken, J.
;
Van Schaftingen, E.
;
Nelson, P.
2004
Twenty-two novel mutations in the lysosomal a-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II
Hermans, M.
;
van Leenen, D.
;
Kroos, M.
;
Beesley, C.
;
Van der Ploeg, A.
;
Sakuraba, H.
;
Wevers, R.
;
Kleijer, W.
;
Mikelakakis, H.
;
Kirk, E.
;
Fletcher, J.
;
Bosshard, N.
;
Basel-Vanagaite, L.
;
Besley, G.
;
Reuser, A.
2002
The molecular basis of cystathionine b-synthase deficiency in Australian patients: Genotype-phenotype correlations and response to treatment
Gaustadnes, M.
;
Wilcken, B.
;
Oliveriusova, J.
;
McGill, J.
;
Fletcher, J.
;
Kraus, J.
;
Wilcken, D.
2003
Analysis of CFTR mutation screening in cases of isolated fetal echogenic bowel in the South Australian population
Nicholls, C.
;
Nelson, P.
;
Poplawski, N.
;
Chin, S.
;
Fong, B.
;
Solly, P.
;
Fietz, M.
;
Fletcher, J.
2002
Urine amino and organic acids analysis in developmental delay or intellectual disability
Poplawski, N.
;
Harrison, J.
;
Norton, W.
;
Wiltshire, E.
;
Fletcher, J.
2005
Enzyme replacement therapy for Gaucher disease in Australia
Goldblatt, J.
;
Szer, J.
;
Fletcher, J.
;
McGill, J.
;
Rowell, J.
;
Wilson, M.
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Author
2
McGill, J.
2
Nelson, P.
2
Poplawski, N.
1
Basel-Vanagaite, L.
1
Beesley, C.
1
Besley, G.
1
Bosshard, N.
1
Chin, S.
1
Fietz, M.
1
Fong, B.
.
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Humans
5
Child, Preschool
5
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4
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4
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3
Adolescent
3
Adult
3
Mutation
2
Aged
2
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