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Issue Date
Title
Author(s)
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.
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.
2012
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing
Calvo, S.
;
Compton, A.
;
Hershman, S.
;
Lim, S.
;
Lieber, D.
;
Tucker, E.
;
Laskowski, A.
;
Garone, C.
;
Liu, S.
;
Jaffe, D.
;
Christodoulou, J.
;
Fletcher, J.
;
Bruno, D.
;
Goldblatt, J.
;
DiMauro, S.
;
Thorburn, D.
;
Mootha, V.
Discover
Author
2
Goldblatt, J.
2
McGill, J.
1
Basel-Vanagaite, L.
1
Beesley, C.
1
Besley, G.
1
Bosshard, N.
1
Bruno, D.
1
Calvo, S.
1
Christodoulou, J.
1
Compton, A.
.
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Infant
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4
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3
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3
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Adult
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Drug Administration Schedule
2
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