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Results:
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Results: 8
Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases?
Authors:
Maire, I
Citation: I. Maire, Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases?, J INH MET D, 24, 2001, pp. 57-61
Molecular basis of Mucopolysaccharidosis type II in Portugal: identification of four novel mutations
Authors:
da Silva, IM
Froissart, R
dos Santos, HM
Caseiro, C
Maire, I
Bozon, D
Citation: Im. Da Silva et al., Molecular basis of Mucopolysaccharidosis type II in Portugal: identification of four novel mutations, CLIN GENET, 60(4), 2001, pp. 316-318
Authors:
Diaz, GA
Gelb, BD
Risch, N
Nygaard, TG
Frisch, A
Cohen, IJ
Miranda, CS
Amaral, O
Maire, I
Poenaru, L
Caillaud, C
Weizberg, M
Mistry, P
Desnick, RJ
Citation: Ga. Diaz et al., Gaucher disease: The origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations, AM J HU GEN, 66(6), 2000, pp. 1821-1832
Authors:
Veiga-Da-Cunha, M
Gerin, I
Chen, YT
Lee, PJ
Leonard, JV
Maire, I
Wendel, U
Vikkula, M
Van Schaftingen, E
Citation: M. Veiga-da-cunha et al., The Putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a, EUR J HUM G, 7(6), 1999, pp. 717-723
Authors:
Mornet, E
Muller, F
Ngo, S
Taillandier, A
Simon-Bouy, B
Maire, I
Oury, JF
Citation: E. Mornet et al., Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia, PRENAT DIAG, 19(8), 1999, pp. 755-757
Authors:
Cudry, S
Froissart, R
Bouton, O
Maire, I
Bozon, D
Citation: S. Cudry et al., The 2.1-, 5.4- and 5.7-kb transcripts of the IDS gene are generated by different polyadenylation signals, BBA-GENE ST, 1447(1), 1999, pp. 35-42
Authors:
Alegria, A
Martins, E
Dias, M
Cunha, A
Cardoso, ML
Maire, I
Citation: A. Alegria et al., Glycogen storage disease type IV presenting as hydrops fetalis, J INH MET D, 22(3), 1999, pp. 330-332
Authors:
Bruni, N
Rajas, F
Montano, S
Chevalier-Porst, F
Maire, I
Mithieux, G
Citation: N. Bruni et al., Enzymatic characterization of four new mutations in the glucose-6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a, ANN HUM GEN, 63, 1999, pp. 141-146
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