Authors:
Salomaki, P
Aula, N
Juvonen, V
Renlund, M
Aula, P
Citation: P. Salomaki et al., Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families, PRENAT DIAG, 21(5), 2001, pp. 354-358
Authors:
Aula, N
Salomaki, P
Timonen, R
Verheijen, F
Mancini, G
Mansson, JE
Aula, P
Peltonen, L
Citation: N. Aula et al., The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation, AM J HU GEN, 67(4), 2000, pp. 832-840
Authors:
Verheijen, FW
Verbeek, E
Aula, N
Beerens, CEMT
Havelaar, AC
Joosse, M
Peltonen, L
Aula, P
Galjaard, H
van der Spek, PJ
Mancini, GMS
Citation: Fw. Verheijen et al., A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases, NAT GENET, 23(4), 1999, pp. 462-465