-
1
-
-
0027193750
-
Follow-up in patients with aspartylglucosaminuria. Part I. The course of intellectual functions
-
Arvio M. (1993a) Follow-up in patients with aspartylglucosaminuria. Part I. The course of intellectual functions. Acta Paediatr 82: 469-471.
-
(1993)
Acta Paediatr.
, vol.82
, pp. 469-471
-
-
Arvio, M.1
-
2
-
-
0027324416
-
Follow-up in patients with aspartylglucosaminuria. Part II. Adaptive skills
-
Arvio M. (1993b) Follow-up in patients with aspartylglucosaminuria. Part II. Adaptive skills. Acta Paediatr 82: 590-594.
-
(1993)
Acta Paediatr.
, vol.82
, pp. 590-594
-
-
Arvio, M.1
-
3
-
-
9244252928
-
Molecular pathogenesis of Salla disease
-
(Thesis) University of Helsinki, Finland
-
Aula N. (2003) Molecular pathogenesis of Salla disease. (Thesis) University of Helsinki, Finland.
-
(2003)
-
-
Aula, N.1
-
4
-
-
0033799477
-
The spectrum of SLC 17A5-gene mutations resulting in free sialic acid storage diseases indicates some genotype-phenotype correlation
-
Aula N, Salomäki P, Timonen R, Verheijen F, Mancini G, Mansson JE, Aula P, Peltonen L. (2000) The spectrum of SLC 17A5-gene mutations resulting in free sialic acid storage diseases indicates some genotype-phenotype correlation. Am J Hum Genet 67: 832-840.
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 832-840
-
-
Aula, N.1
Salomäki, P.2
Timonen, R.3
Verheijen, F.4
Mancini, G.5
Mansson, J.E.6
Aula, P.7
Peltonen, L.8
-
5
-
-
0000286154
-
Disorders of free sialic acid storage
-
Scriver CR, Sly WS, Valle DS, editors. New York: McGraw-Hill
-
Aula P, Gahl W. (2001) Disorders of free sialic acid storage. In: Scriver CR, Sly WS, Valle DS, editors. The Metabolic and Molecular Basis of Inherited Disease. New York: McGraw-Hill. p 5109-5120.
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 5109-5120
-
-
Aula, P.1
Gahl, W.2
-
6
-
-
0003499725
-
-
2nd edn. San Antonio, TX: The Psychological Corporation
-
Bayley N. (1993) Bayley Scales of Infant Development. 2nd edn. San Antonio, TX: The Psychological Corporation.
-
(1993)
Bayley Scales of Infant Development
-
-
Bayley, N.1
-
9
-
-
0041073842
-
Item and factor analyses of the Bayley Scales of Infant Development
-
Rovee-Collier C, Lipsitt LP, editors. New Jersey: ABLEX Publishing Corporation
-
Burns WJ, Burns KA, Kabacoff RI. (1992) Item and factor analyses of the Bayley Scales of Infant Development. In: Rovee-Collier C, Lipsitt LP, editors. Advances in Infancy Research. Vol 7. New Jersey: ABLEX Publishing Corporation. p 199-214.
-
(1992)
Advances in Infancy Research
, vol.7
, pp. 199-214
-
-
Burns, W.J.1
Burns, K.A.2
Kabacoff, R.I.3
-
10
-
-
0022517246
-
Salla disease in one non-Finnish patient
-
Echenne B, Vidal M, Maire I, Michalski JC, Baldet P, Astruc J. (1986) Salla disease in one non-Finnish patient. Eur J Pediatr 145: 320-322.
-
(1986)
Eur. J. Pediatr.
, vol.145
, pp. 320-322
-
-
Echenne, B.1
Vidal, M.2
Maire, I.3
Michalski, J.C.4
Baldet, P.5
Astruc, J.6
-
13
-
-
0028047005
-
Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder
-
Haataja L, Parkkola R, Sonninen P, Schleutker J, Turpeinen U, Äärimaa T, Renlund M, Aula P. (1994a) Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder. Neuropediatrics 25: 238-244.
-
(1994)
Neuropediatrics
, vol.25
, pp. 238-244
-
-
Haataja, L.1
Parkkola, R.2
Sonninen, P.3
Schleutker, J.4
Turpeinen, U.5
Äärimaa, T.6
Renlund, M.7
Aula, P.8
-
14
-
-
0028282518
-
The genetic locus of free sialic acid storage disease maps to the long arm of chromosome 6
-
Haataja L, Schleutker J, Laine A-P, Renlund M, Savontaus M-L, Dib C, Weissenbach J, Peltonen L, Aula P. (1994b) The genetic locus of free sialic acid storage disease maps to the long arm of chromosome 6. Am J Hum Genet 4: 1042-1049.
-
(1994)
Am. J. Hum. Genet.
, vol.4
, pp. 1042-1049
-
-
Haataja, L.1
Schleutker, J.2
Laine, A.-P.3
Renlund, M.4
Savontaus, M.-L.5
Dib, C.6
Weissenbach, J.7
Peltonen, L.8
Aula, P.9
-
15
-
-
0020025695
-
Generalized N-acetylneuraminic acid storage disease: Quantification and identification of the monosaccharide accumulating in brain and other tissues
-
Hancock LW, Thaler MM, Horwitz AL, Dawson G. (1982) Generalized N-acetylneuraminic acid storage disease: quantification and identification of the monosaccharide accumulating in brain and other tissues. J Neurochem 38: 803-809.
-
(1982)
J. Neurochem.
, vol.38
, pp. 803-809
-
-
Hancock, L.W.1
Thaler, M.M.2
Horwitz, A.L.3
Dawson, G.4
-
16
-
-
0028472413
-
Predictive value of the Bayley Mental Scale in the early detection of cognitive delays in high-risk infants
-
Harris SR, Langkamp DL. (1994) Predictive value of the Bayley Mental Scale in the early detection of cognitive delays in high-risk infants. J Perinatol 14: 275-280.
-
(1994)
J. Perinatol.
, vol.14
, pp. 275-280
-
-
Harris, S.R.1
Langkamp, D.L.2
-
20
-
-
0026632991
-
Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection
-
Mancini GMS, Hu P, Verheijen FW, van Diggelen OP, Janse HC, Kleier WJ, Beemer FA, Jennekens FGI. (1992) Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection. Eur J Pediatr 151: 590-595.
-
(1992)
Eur. J. Pediatr.
, vol.151
, pp. 590-595
-
-
Mancini, G.M.S.1
Hu, P.2
Verheijen, F.W.3
van Diggelen, O.P.4
Janse, H.C.5
Kleier, W.J.6
Beemer, F.A.7
Jennekens, F.G.I.8
-
21
-
-
0002739198
-
Diseases of Finland and Scandinavia
-
Rothschild HR, editor. New York: Academic Press
-
Norio, R. (1981) Diseases of Finland and Scandinavia. In: Rothschild HR, editor. Biocultural Aspects of Disease. New York: Academic Press. p 359-415.
-
(1981)
Biocultural Aspects of Disease
, pp. 359-415
-
-
Norio, R.1
-
22
-
-
9244243517
-
Logopedian pro gradu-tutkielma. Oulun yliopisto: Suomen ja saamen kielen ja logopedian laitos
-
(In Finnish)
-
Posti K. (1997) Puheen ymmärtäminen, tuottaminen ja kommunikointi Sallan taudissa. Logopedian pro gradu-tutkielma. Oulun yliopisto: Suomen ja saamen kielen ja logopedian laitos. (In Finnish)
-
(1997)
Puheen Ymmärtäminen, Tuottaminen Ja Kommunikointi Sallan Taudissa
-
-
Posti, K.1
-
24
-
-
0020691437
-
Salla disease: A new lysosomal storage disorder with disturbed sialic acid metabolism
-
Renlund M, Aula P, Raivio KO, Autio S, Sainio K, Rapola J, Koskela SL. (1983) Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism. Neurology 44: 57-66.
-
(1983)
Neurology
, vol.44
, pp. 57-66
-
-
Renlund, M.1
Aula, P.2
Raivio, K.O.3
Autio, S.4
Sainio, K.5
Rapola, J.6
Koskela, S.L.7
-
25
-
-
0021320472
-
Clinical and laboratory diagnosis of Salla disease in infancy and childhood
-
Renlund M. (1984) Clinical and laboratory diagnosis of Salla disease in infancy and childhood. J Pediatr 2: 232-236.
-
(1984)
J. Pediatr.
, vol.2
, pp. 232-236
-
-
Renlund, M.1
-
28
-
-
0030049540
-
Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease
-
Schleutker J, Sistonen P, Aula P. (1996) Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease. J Med Genet 33: 36-41.
-
(1996)
J. Med. Genet.
, vol.33
, pp. 36-41
-
-
Schleutker, J.1
Sistonen, P.2
Aula, P.3
-
29
-
-
0029967645
-
The spectrum of free neuraminic acid storage disease in childhood: Clinical, morphological and biochemical observations in three non-Finnish patients
-
Sewell AC, Poets CF, Hegen I, Stöß H, Pontz BF. (1996) The spectrum of free neuraminic acid storage disease in childhood: clinical, morphological and biochemical observations in three non-Finnish patients. Am J Med Genet 63: 203-208.
-
(1996)
Am. J. Med. Genet.
, vol.63
, pp. 203-208
-
-
Sewell, A.C.1
Poets, C.F.2
Hegen, I.3
Stöß, H.4
Pontz, B.F.5
-
30
-
-
9244228363
-
-
Stockholm: Universitetsforlaget, Scandinavian University Press
-
Smith L. (1997) Småbarnsålderns Neuropsykologi. Stockholm: Universitetsforlaget, Scandinavian University Press.
-
(1997)
Småbarnsålderns Neuropsykologi
-
-
Smith, L.1
-
31
-
-
0032899679
-
Increased brain glucose utilization in Salla disease (free sialic acid storage disorder)
-
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. (1999) Increased brain glucose utilization in Salla disease (free sialic acid storage disorder). J Nucl Med 40: 12-18.
-
(1999)
J. Nucl. Med.
, vol.40
, pp. 12-18
-
-
Suhonen-Polvi, H.1
Varho, T.2
Metsahonkala, L.3
Haataja, L.4
Ruotsalainen, U.5
Haaparanta, M.6
Bergman, J.7
Solin, O.8
Aarimaa, T.9
Holopainen, I.10
Vainionpaa, L.11
Manner, T.12
Jaaskelainen, S.13
Renlund, M.14
Sillanpaa, M.15
Aula, P.16
-
32
-
-
0026180712
-
Longitudinal prediction of specific cognitive abilities from infant novelty preference
-
Thompson LA, Fagan JF, Fulker DW. (1991) Longitudinal prediction of specific cognitive abilities from infant novelty preference. Child Dev 62: 530-538.
-
(1991)
Child. Dev.
, vol.62
, pp. 530-538
-
-
Thompson, L.A.1
Fagan, J.F.2
Fulker, D.W.3
-
33
-
-
0036242576
-
Phenotypic spectrum of Salla disease, a free sialic acid storage disorder
-
Varho T, Alajoki L, Posti K, Korhonen T, Renlund M, Nyman S, Sillanpää M, Aula P (2002) Phenotypic spectrum of Salla disease, a free sialic acid storage disorder. Pediatr Neurol 26: 267-273.
-
(2002)
Pediatr. Neurol.
, vol.26
, pp. 267-273
-
-
Varho, T.1
Alajoki, L.2
Posti, K.3
Korhonen, T.4
Renlund, M.5
Nyman, S.6
Sillanpää, M.7
Aula, P.8
-
34
-
-
0343192508
-
Central and peripheral nervous system dysfunction in the clinical variation of Salla disease
-
Varho T, Jääkeläinen S, Tolonen U, Sonninen P, Vainionpää L, Aula P, Sillanpää M. (2000) Central and peripheral nervous system dysfunction in the clinical variation of Salla disease. Neurology 55: 99-103.
-
(2000)
Neurology
, vol.55
, pp. 99-103
-
-
Varho, T.1
Jääkeläinen, S.2
Tolonen, U.3
Sonninen, P.4
Vainionpää, L.5
Aula, P.6
Sillanpää, M.7
-
35
-
-
0033549025
-
A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease
-
Varho T, Komu M, Sonninen P, Holopainen I, Nyman S, Manner T, Sillanpää M, Aula P, Lundbom M. (1999) A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease. Neurology 52: 1668-1672.
-
(1999)
Neurology
, vol.52
, pp. 1668-1672
-
-
Varho, T.1
Komu, M.2
Sonninen, P.3
Holopainen, I.4
Nyman, S.5
Manner, T.6
Sillanpää, M.7
Aula, P.8
Lundbom, M.9
-
36
-
-
0032706624
-
A new gene, encoding an anion transporter is mutated in sialic acid storage diseases
-
Verheijen FW, Verbeek E, Aula N, Beerens CEMT, Havelaar AC, Joosse M, Peltonen L, Aula P, Galjaard H, van der Spek PJ, Mancini C. (1999) A new gene, encoding an anion transporter is mutated in sialic acid storage diseases. Nat Genet 23: 462-465.
-
(1999)
Nat. Genet.
, vol.23
, pp. 462-465
-
-
Verheijen, F.W.1
Verbeek, E.2
Aula, N.3
Beerens, C.E.M.T.4
Havelaar, A.C.5
Joosse, M.6
Peltonen, L.7
Aula, P.8
Galjaard, H.9
van der Spek, P.J.10
Mancini, C.11
-
39
-
-
0022368646
-
The brain connection. The corpus callosum is larger in left-handers
-
Witelson SF. (1985) The brain connection. The corpus callosum is larger in left-handers. Science 229: 665-668.
-
(1985)
Science
, vol.229
, pp. 665-668
-
-
Witelson, S.F.1
-
40
-
-
0022634563
-
Salla disease variants. Sialoyllaciduric encephalopathy with increased sialisade activity in two non-Finnish children
-
Ylitalo V, Hagberg B, Rapola J, Månsson JE, Svennerholm L, Sanner G, Tonnby B. (1986) Salla disease variants. Sialoyllaciduric encephalopathy with increased sialisade activity in two non-Finnish children. Neuropediatrics 17: 44-47.
-
(1986)
Neuropediatrics
, vol.17
, pp. 44-47
-
-
Ylitalo, V.1
Hagberg, B.2
Rapola, J.3
Månsson, J.E.4
Svennerholm, L.5
Sanner, G.6
Tonnby, B.7
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