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Results:
1-13
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Results: 13
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:
Mykkanen, J
Torrents, D
Pineda, M
Camps, M
Yoldi, ME
Horelli-Kuitunen, N
Huoponen, K
Heinonen, M
Oksanen, J
Simell, O
Savontaus, ML
Zorzano, A
Palacin, M
Aula, P
Citation: J. Mykkanen et al., Functional analysis of novel mutations in y(+)LAT-1 amino acid transportergene causing lysinuric protein intolerance (LPI), HUM MOL GEN, 9(3), 2000, pp. 431-438
Authors:
Varho, T
Jaaskelainen, S
Tolonen, U
Sonninen, P
Vainionpaa, L
Aula, P
Sillanpaa, M
Citation: T. Varho et al., Central and peripheral nervous system dysfunction in the clinical variation of Salla disease, NEUROLOGY, 55(1), 2000, pp. 99-103
Authors:
Jarvinen, O
Hietala, M
Aalto, AM
Arvio, M
Uutela, A
Aula, P
Kaariainen, H
Citation: O. Jarvinen et al., A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria, CLIN GENET, 58(6), 2000, pp. 447-454
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
Authors:
Torrents, D
Mykkanen, J
Pineda, M
Feliubadalo, L
Estevez, R
de Cid, R
Sanjurjo, P
Zorzano, A
Nunes, V
Huoponen, K
Reinikainen, A
Simell, O
Savontaus, ML
Aula, P
Palacin, M
Citation: D. Torrents et al., Identification of SLC7A7, encoding y(+)LAT-1, as the lysinuric protein intolerance gene, NAT GENET, 21(3), 1999, pp. 293-296
Authors:
Lahermo, P
Savontaus, ML
Sistonen, P
Beres, J
de Knijff, P
Aula, P
Sajantila, A
Citation: P. Lahermo et al., Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami, EUR J HUM G, 7(4), 1999, pp. 447-458
Authors:
Suhonen-Polvi, H
Varho, T
Metsahonkala, L
Haataja, L
Ruotsalainen, U
Haaparanta, M
Bergman, J
Solin, O
Aarimaa, T
Holopainen, I
Vainionpaa, L
Manner, T
Jaaskelainen, S
Renlund, M
Sillanpaa, M
Aula, P
Citation: H. Suhonen-polvi et al., Increased brain glucose utilization in Salla disease (free sialic acid storage disorder), J NUCL MED, 40(1), 1999, pp. 12-18
Authors:
Varho, T
Komu, M
Sonninen, P
Holopainen, I
Nyman, S
Manner, T
Sillanpaa, M
Aula, P
Lundbom, N
Citation: T. Varho et al., A new metabolite contributing to N-acetyl signal in H-1 MRS of the brain in Salla disease, NEUROLOGY, 52(8), 1999, pp. 1668-1672
Authors:
Valkonen, S
Hietala, M
Savontaus, ML
Aula, P
Citation: S. Valkonen et al., Origin of Finnish mutations causing aspartylglucosaminuria, HEREDITAS, 131(3), 1999, pp. 191-195
Authors:
Lauteala, T
Mykkanen, J
Horelli-Kuitunen, N
Aaltonen, J
Paavola, P
Savontaus, ML
Simell, O
Aula, P
Citation: T. Lauteala et al., Characterization of the lysinuric protein intolerance (LPI) region within T-cell receptor alpha/delta gene cluster on chromosome site 14q11, HEREDITAS, 130(1), 1999, pp. 19-24
Authors:
Lauteala, T
Mykkanen, J
Sperandeo, MP
Gasparini, P
Savontaus, ML
Simell, O
Andria, G
Sebastio, G
Aula, P
Citation: T. Lauteala et al., Genetic homogeneity of lysinuric protein intolerance, EUR J HUM G, 6(6), 1998, pp. 612-615
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