-
1
-
-
0036395064
-
Unraveling the molecular patho-genesis of free sialic acid storage disorders: Altered targeting of mutant sialin
-
Aula, N., Jalanko, A., Aula, P., and Peltonen, L., 2002, Unraveling the molecular patho-genesis of free sialic acid storage disorders: altered targeting of mutant sialin, Mol Genet Metab 77:99.
-
(2002)
Mol Genet Metab
, vol.77
, pp. 99
-
-
Aula, N.1
Jalanko, A.2
Aula, P.3
Peltonen, L.4
-
2
-
-
1542330707
-
Sialin expression in the CNS implicates extralysosomal function in neurons
-
Aula, N., Kopra, O., Jalanko, A., and Peltonen, L., 2004, Sialin expression in the CNS implicates extralysosomal function in neurons, Neurobiol Dis 15:251.
-
(2004)
Neurobiol Dis
, vol.15
, pp. 251
-
-
Aula, N.1
Kopra, O.2
Jalanko, A.3
Peltonen, L.4
-
3
-
-
0033799477
-
The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation
-
Aula, N., Salomaki, P., Timonen, R., Verheijen, F., Mancini, G., Mansson, J. E., Aula, P., and Peltonen, L., 2000, The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation, Am J Hum Genet 67:832.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 832
-
-
Aula, N.1
Salomaki, P.2
Timonen, R.3
Verheijen, F.4
Mancini, G.5
Mansson, J.E.6
Aula, P.7
Peltonen, L.8
-
4
-
-
0000286154
-
Disorders of free sialic acid storage
-
C. Scriver, A. Beaudet, W. Sly, and D. Valle, Eds. New York, McGraw-Hill
-
Aula, P., and Gahl, W., 2001, Disorders of Free Sialic Acid Storage. In The Metabolic and Molecular Bases of Inherited Disease, C. Scriver, A. Beaudet, W. Sly, and D. Valle, Eds. (New York, McGraw-Hill), pp. 5109-5120.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 5109-5120
-
-
Aula, P.1
Gahl, W.2
-
5
-
-
0018378430
-
"Salla Disease". A new lysosomal storage disorder
-
Aula, P., Autio, S., Raivio, K., Rapola, J., Thoden, C., Koskela, S., and Yamashina, I., 1979, "Salla Disease". A new lysosomal storage disorder, Arch Neurol 36:88.
-
(1979)
Arch Neurol
, vol.36
, pp. 88
-
-
Aula, P.1
Autio, S.2
Raivio, K.3
Rapola, J.4
Thoden, C.5
Koskela, S.6
Yamashina, I.7
-
6
-
-
12244251434
-
An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease
-
Biancheri, R., Verbeek, E., Rossi, A., Gaggero, R., Roccatagliata, L., Gatti, R., van Diggelen, O., Verheijen, F. W., and Mancini, G. M., 2002, An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease, Clin Genet 61:443.
-
(2002)
Clin Genet
, vol.61
, pp. 443
-
-
Biancheri, R.1
Verbeek, E.2
Rossi, A.3
Gaggero, R.4
Roccatagliata, L.5
Gatti, R.6
Van Diggelen, O.7
Verheijen, F.W.8
Mancini, G.M.9
-
7
-
-
0033620656
-
Molecular bases for the recognition of tyrosine-based sorting signals
-
Bonifacino, J., and Dell'Angelica, E., 1999, Molecular bases for the recognition of tyrosine-based sorting signals, J Cell Biol 145:923.
-
(1999)
J Cell Biol
, vol.145
, pp. 923
-
-
Bonifacino, J.1
Dell'Angelica, E.2
-
8
-
-
0035918290
-
The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif
-
Cherqui, S., Kalatzis, V., Trugnan, G., and Antignac, C., 2001, The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif, J Biol Chem 276:13314.
-
(2001)
J Biol Chem
, vol.276
, pp. 13314
-
-
Cherqui, S.1
Kalatzis, V.2
Trugnan, G.3
Antignac, C.4
-
9
-
-
0023902216
-
Biochemical characterization of patients and prenatal diagnosis of sialic acid storage disease for three families
-
Clements, P., Taylor, J., and Hopwood, J., 1988, Biochemical characterization of patients and prenatal diagnosis of sialic acid storage disease for three families., J Inherit Metab Dis 11:30.
-
(1988)
J Inherit Metab Dis
, vol.11
, pp. 30
-
-
Clements, P.1
Taylor, J.2
Hopwood, J.3
-
10
-
-
0021034637
-
Neonatal ascites due to lysosomal storage disease
-
Daneman, A., Stringer, D., and Reillly, B., 1983, Neonatal ascites due to lysosomal storage disease, Radiology 149:463.
-
(1983)
Radiology
, vol.149
, pp. 463
-
-
Daneman, A.1
Stringer, D.2
Reillly, B.3
-
11
-
-
0021348202
-
Congenital ascites as a presenting sign of lysosomal storage disease
-
Gillan, J. E., Lowden, J. A., Gaskin, K., and Cutz, E., 1984, Congenital ascites as a presenting sign of lysosomal storage disease, J Pediatrics 104:225.
-
(1984)
J Pediatrics
, vol.104
, pp. 225
-
-
Gillan, J.E.1
Lowden, J.A.2
Gaskin, K.3
Cutz, E.4
-
12
-
-
0028282518
-
The genetic locus for 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., and Aula, P., 1994, The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6, Am J Hum Genet 54:1042.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 1042
-
-
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
-
13
-
-
0020510930
-
N-acetylneuraminic acid and sialoglycoconjugate metabolism in fibroblasts from a patient with generalized N-acetylneuraminic acid storage disease
-
Hancock, L., Horwitz, A., and Dawson, G., 1983, N-acetylneuraminic acid and sialoglycoconjugate metabolism in fibroblasts from a patient with generalized N-acetylneuraminic acid storage disease, Biochem Biophys Acta 760:42.
-
(1983)
Biochem Biophys Acta
, vol.760
, pp. 42
-
-
Hancock, L.1
Horwitz, A.2
Dawson, G.3
-
14
-
-
0032545509
-
Purification of the lysosomal sialic acid transporter. Functional characteristics of a monocarboxylate transporter
-
Havelaar, A. C., Mancini, G. M., Beerens, C. E., Souren, R. M., and Verheijen, F. W., 1998, Purification of the lysosomal sialic acid transporter. Functional characteristics of a monocarboxylate transporter, J Biol Chem 273:34568.
-
(1998)
J Biol Chem
, vol.273
, pp. 34568
-
-
Havelaar, A.C.1
Mancini, G.M.2
Beerens, C.E.3
Souren, R.M.4
Verheijen, F.W.5
-
15
-
-
0032546785
-
The molecular basis for the absence of N-glycolylneuraminic acid in humans
-
Irie, A., Koyama, S., Kozutsumi, Y., Kawasaki, T., and Suzuki, A., 1998, The molecular basis for the absence of N-glycolylneuraminic acid in humans, J Biol Chem 273:15866.
-
(1998)
J Biol Chem
, vol.273
, pp. 15866
-
-
Irie, A.1
Koyama, S.2
Kozutsumi, Y.3
Kawasaki, T.4
Suzuki, A.5
-
16
-
-
10744228308
-
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children
-
Kleta, R., Aughton, D. J., Rivkin, M. J., Huizing, M., Strovel, E., Anikster, Y., Orvisky, E., Natowicz, M., Krasnewich, D., and Gahl, W. A., 2003, Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children, Am J Med Genet 120A: 28.
-
(2003)
Am J Med Genet
, vol.120 A
, pp. 28
-
-
Kleta, R.1
Aughton, D.J.2
Rivkin, M.J.3
Huizing, M.4
Strovel, E.5
Anikster, Y.6
Orvisky, E.7
Natowicz, M.8
Krasnewich, D.9
Gahl, W.A.10
-
17
-
-
2542442511
-
Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity
-
Kleta, R., Morse, R., Orvisky, E., Krasnewich, D., Alroy, J., Ucci, A., Bernardini, I., Wenger, D., and Gahl, W., 2004, Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity, Mol Genet Metab 82:137.
-
(2004)
Mol Genet Metab
, vol.82
, pp. 137
-
-
Kleta, R.1
Morse, R.2
Orvisky, E.3
Krasnewich, D.4
Alroy, J.5
Ucci, A.6
Bernardini, I.7
Wenger, D.8
Gahl, W.9
-
18
-
-
78651144681
-
The feedback control of sugar nucleotide biosynthesis in liver
-
Kornfeld, S., Kornfeld, R., Neufeld, E., and O'Brien, P., 1964, The feedback control of sugar nucleotide biosynthesis in liver, Proc Natl Acad Sci USA 52:371.
-
(1964)
Proc Natl Acad Sci USA
, vol.52
, pp. 371
-
-
Kornfeld, S.1
Kornfeld, R.2
Neufeld, E.3
O'Brien, P.4
-
19
-
-
0024354751
-
Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancy
-
Lake, B., Young, E., and Nicolaides, K., 1989, Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancy, J Inherit Metab Dis 12:152.
-
(1989)
J Inherit Metab Dis
, vol.12
, pp. 152
-
-
Lake, B.1
Young, E.2
Nicolaides, K.3
-
20
-
-
0033582548
-
Clinical spectrum of infantile free sialic acid storage disease
-
Lemyre, E., Russo, P., Melancon, S. B., Gagne, R., Potier, M., and Lambert, M., 1999, Clinical spectrum of infantile free sialic acid storage disease, Am J Med Genet 82:385.
-
(1999)
Am J Med Genet
, vol.82
, pp. 385
-
-
Lemyre, E.1
Russo, P.2
Melancon, S.B.3
Gagne, R.4
Potier, M.5
Lambert, M.6
-
21
-
-
0026721047
-
Functional reconstitution of the lysosomal sialic acid carrier into proteoliposomes
-
Mancini, G., Beerens, C., Galjaard, H., and Verheijen, F., 1992, Functional reconstitution of the lysosomal sialic acid carrier into proteoliposomes, Proc Natl Acad Sci USA 89:6609.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 6609
-
-
Mancini, G.1
Beerens, C.2
Galjaard, H.3
Verheijen, F.4
-
22
-
-
0024444887
-
Characterization of a proton-driven carrier for sialic acid in the lysosomal membrane. Evidence for a group-specific transport system for acidic monosaccharides
-
Mancini, G., de Jonge, H., Galjaard, H., and Verheijen, F., 1989, Characterization of a proton-driven carrier for sialic acid in the lysosomal membrane. Evidence for a group-specific transport system for acidic monosaccharides, J Biol Chem 264:15247.
-
(1989)
J Biol Chem
, vol.264
, pp. 15247
-
-
Mancini, G.1
De Jonge, H.2
Galjaard, H.3
Verheijen, F.4
-
23
-
-
0022899210
-
Free N-acetylneuraminic acid storage disorders: Evidence for defective NANA transport across the lysosomal membrane
-
Mancini, G., Verheijen, F., and Galjaard, H., 1986, Free N-acetylneuraminic acid storage disorders: evidence for defective NANA transport across the lysosomal membrane, Hum Genet 73:214.
-
(1986)
Hum Genet
, vol.73
, pp. 214
-
-
Mancini, G.1
Verheijen, F.2
Galjaard, H.3
-
24
-
-
0023880188
-
Defective lysosomal release of glycoprotein-derived sialic acid in fibroblasts from patients with sialic acid storage disease
-
Mendla, K., Baumkotter, J., Rosenau, C., Ulrich-Bott, B., and Cantz, M., 1988, Defective lysosomal release of glycoprotein-derived sialic acid in fibroblasts from patients with sialic acid storage disease, Biochem J 250:261.
-
(1988)
Biochem J
, vol.250
, pp. 261
-
-
Mendla, K.1
Baumkotter, J.2
Rosenau, C.3
Ulrich-Bott, B.4
Cantz, M.5
-
25
-
-
10644257949
-
Functional characterization of wild-type and mutant human sialin
-
Morin, P., Sagne, C., and Gasnier, B., 2004, Functional characterization of wild-type and mutant human sialin, EMBO J 23:4560.
-
(2004)
EMBO J
, vol.23
, pp. 4560
-
-
Morin, P.1
Sagne, C.2
Gasnier, B.3
-
26
-
-
0345700301
-
Infantile sialic acid storage disease: Serial ultrasound and magnetic resonance imaging features
-
Parazzini, C., Arena, S., Marchetti, L., Menni, F., Filocamo, M., Verheijen, F., Mancini, G., Triulzi, F., and Parini, R., 2003, Infantile sialic acid storage disease: Serial ultrasound and magnetic resonance imaging features, AJNR Am J Neuroradiol 24:398.
-
(2003)
AJNR Am J Neuroradiol
, vol.24
, pp. 398
-
-
Parazzini, C.1
Arena, S.2
Marchetti, L.3
Menni, F.4
Filocamo, M.5
Verheijen, F.6
Mancini, G.7
Triulzi, F.8
Parini, R.9
-
27
-
-
0023735460
-
Infantile sialic acid storage disease associated with renal disease
-
Pueschel, S., O'Shea, P., Alroy, J., Ambler, M., Dangond, F., Daniel, P., and Kolodny, E., 1988, Infantile sialic acid storage disease associated with renal disease, Pediatr Neurol 4:207.
-
(1988)
Pediatr Neurol
, vol.4
, pp. 207
-
-
Pueschel, S.1
O'Shea, P.2
Alroy, J.3
Ambler, M.4
Dangond, F.5
Daniel, P.6
Kolodny, E.7
-
28
-
-
0032522517
-
Dileucine-based sorting signals bind to the beta chain of AP-1 at a site distinct and regulated differently from the tyrosine-based motif-binding site
-
Rapoport, I., Chen, Y., Cupers, P., Shoelson, S., and Kirchhausen, T., 1998, Dileucine-based sorting signals bind to the beta chain of AP-1 at a site distinct and regulated differently from the tyrosine-based motif-binding site., EMBO J 17:2148.
-
(1998)
EMBO J
, vol.17
, pp. 2148
-
-
Rapoport, I.1
Chen, Y.2
Cupers, P.3
Shoelson, S.4
Kirchhausen, T.5
-
29
-
-
0023471321
-
Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes
-
Renlund, M., and Aula, P., 1987, Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes, Am J Med Genet 28:377.
-
(1987)
Am J Med Genet
, vol.28
, pp. 377
-
-
Renlund, M.1
Aula, P.2
-
30
-
-
0020691437
-
Salla disease: A new lysosomal storage disorder with disturbed sialic acid metabolism
-
Renlund, M., Aula, P., Raivio, K. O., Autio, S., Sainio, K., Rapola, J., and Koskela, S. L., 1983a, Salla disease: A new lysosomal storage disorder with disturbed sialic acid metabolism, Neurology 33:57.
-
(1983)
Neurology
, vol.33
, pp. 57
-
-
Renlund, M.1
Aula, P.2
Raivio, K.O.3
Autio, S.4
Sainio, K.5
Rapola, J.6
Koskela, S.L.7
-
31
-
-
0018572841
-
Increased urinary excretion of free N-acetylneuraminic acid in thirteen patients with Salla disease
-
Renlund, M., Chester, M. A., Lundblad, A., Aula, P., Raivio, K. O., Autio, S., and Koskela, S. L., 1979, Increased urinary excretion of free N-acetylneuraminic acid in thirteen patients with Salla disease, Eur J Biochem 101:245.
-
(1979)
Eur J Biochem
, vol.101
, pp. 245
-
-
Renlund, M.1
Chester, M.A.2
Lundblad, A.3
Aula, P.4
Raivio, K.O.5
Autio, S.6
Koskela, S.L.7
-
32
-
-
0020623398
-
Free N-acetylneuraminic acid in tissues in Salla disease and the enzymes involved in its metabolism
-
Renlund, M., Chester, M. A., Lundblad, A., Parkkinen, J., and Krusius, T., 1983b, Free N-acetylneuraminic acid in tissues in Salla disease and the enzymes involved in its metabolism, Eur J Biochem 130:39.
-
(1983)
Eur J Biochem
, vol.130
, pp. 39
-
-
Renlund, M.1
Chester, M.A.2
Lundblad, A.3
Parkkinen, J.4
Krusius, T.5
-
33
-
-
0022553981
-
Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts
-
Renlund, M., Kovanen, P. T., Raivio, K. O., Aula, P., Gahmberg, C. G., and Ehnholm, C., 1986a, Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts, J Clin Invest 77:568.
-
(1986)
J Clin Invest
, vol.77
, pp. 568
-
-
Renlund, M.1
Kovanen, P.T.2
Raivio, K.O.3
Aula, P.4
Gahmberg, C.G.5
Ehnholm, C.6
-
34
-
-
0022456165
-
Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease
-
Renlund, M., Tietze, F., and Gahl, W. A., 1986b, Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease, Science 232:759.
-
(1986)
Science
, vol.232
, pp. 759
-
-
Renlund, M.1
Tietze, F.2
Gahl, W.A.3
-
35
-
-
0034994128
-
Prenatal detection of free sialic acid storage disease: Genetic and biochemical studies in nine families
-
Salomaki, P., Aula, N., Juvonen, V., Renlund, M., and Aula, P., 2001, Prenatal detection of free sialic acid storage disease: Genetic and biochemical studies in nine families, Prenat Diagn 21:354.
-
(2001)
Prenat Diagn
, vol.21
, pp. 354
-
-
Salomaki, P.1
Aula, N.2
Juvonen, V.3
Renlund, M.4
Aula, P.5
-
36
-
-
0033496523
-
The terminal enzymes of sialic acid metabolism: Acylneuraminate-pyruvate-lyases
-
Schauer, R., Sommer, U., Kruger, D., van Unen, H., and Traving, C., 1999, The terminal enzymes of sialic acid metabolism: Acylneuraminate-pyruvate-lyases, Biosci Rep 19:373.
-
(1999)
Biosci Rep
, vol.19
, pp. 373
-
-
Schauer, R.1
Sommer, U.2
Kruger, D.3
Van Unen, H.4
Traving, C.5
-
37
-
-
0029031580
-
Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15
-
Schleutker, J., Laine, A. P., Haataja, L., Renlund, M., Weissenbach, J., Aula, P., and Peltonen, L., 1995, Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15, Genomics 27:286.
-
(1995)
Genomics
, vol.27
, pp. 286
-
-
Schleutker, J.1
Laine, A.P.2
Haataja, L.3
Renlund, M.4
Weissenbach, J.5
Aula, P.6
Peltonen, L.7
-
38
-
-
0242321665
-
Molecular pathology of NEU1 gene in sialidosis
-
Seyrantepe, V., Poupetova, H., Froissart, R., Zabot, M., Maire, I., and Pshezhetsky, A., 2003, Molecular pathology of NEU1 gene in sialidosis, Hum Mutat 22:343.
-
(2003)
Hum Mutat
, vol.22
, pp. 343
-
-
Seyrantepe, V.1
Poupetova, H.2
Froissart, R.3
Zabot, M.4
Maire, I.5
Pshezhetsky, A.6
-
39
-
-
0025230924
-
Nephrosis in two siblings with infantile sialic acid storage disease
-
Sperl, W., Gruber, W., Quatacker, J., Monnens, L., Thoenes, W., Fink, F. M., and Paschke, E., 1990, Nephrosis in two siblings with infantile sialic acid storage disease, Eur J Pediatr 149:477.
-
(1990)
Eur J Pediatr
, vol.149
, pp. 477
-
-
Sperl, W.1
Gruber, W.2
Quatacker, J.3
Monnens, L.4
Thoenes, W.5
Fink, F.M.6
Paschke, E.7
-
40
-
-
0020601328
-
Sialic acid storage disease with sialuria: Clinical and biochemical features in the severe infantile type
-
Stevenson, R., Lubinsky, M., Taylor, H., Wenger, D., Schroer, R., and Olmstead, P., 1983, Sialic acid storage disease with sialuria: Clinical and biochemical features in the severe infantile type, Pediatrics 72:441.
-
(1983)
Pediatrics
, vol.72
, pp. 441
-
-
Stevenson, R.1
Lubinsky, M.2
Taylor, H.3
Wenger, D.4
Schroer, R.5
Olmstead, P.6
-
41
-
-
0033286018
-
Hydrops fetalis: Lysosomal storage disorders in extremis
-
Stone, D. L., and Sidransky, E., 1999, Hydrops fetalis: Lysosomal storage disorders in extremis, Adv Pediatr 46:409.
-
(1999)
Adv Pediatr
, vol.46
, pp. 409
-
-
Stone, D.L.1
Sidransky, E.2
-
42
-
-
0020584111
-
Alterations in cultured fibroblasts of sibs with an infantile form of free (unbound) sialic acid storage disorder
-
Thomas, G., Scocca, J., Libert, J., Vamos, E., Miller, C., and Reynolds, L., 1983, Alterations in cultured fibroblasts of sibs with an infantile form of free (unbound) sialic acid storage disorder, Pediatr Res 17:307.
-
(1983)
Pediatr Res
, vol.17
, pp. 307
-
-
Thomas, G.1
Scocca, J.2
Libert, J.3
Vamos, E.4
Miller, C.5
Reynolds, L.6
-
43
-
-
0024438743
-
Defective lysosomal egress of free sialic acid (N-acetylneur-aminic acid) in fibroblasts of patients with infantile free sialic acid storage disease
-
Tietze, F., Seppala, R., Renlund, M., Hopwood, J. J., Harper, G. S., Thomas, G. H., and Gahl, W. A., 1989, Defective lysosomal egress of free sialic acid (N-acetylneur-aminic acid) in fibroblasts of patients with infantile free sialic acid storage disease, J Biol Chem 264:15316.
-
(1989)
J Biol Chem
, vol.264
, pp. 15316
-
-
Tietze, F.1
Seppala, R.2
Renlund, M.3
Hopwood, J.J.4
Harper, G.S.5
Thomas, G.H.6
Gahl, W.A.7
-
44
-
-
0020458986
-
Infantile form of sialic acid storage disorder: Clinical, ultrastructural, and biochemical studies in two siblings
-
Tondeur, M., Libert, J., Vamos, E., Van Hoof, F., Thomas, G. H., and Strecker, G., 1982, Infantile form of sialic acid storage disorder: Clinical, ultrastructural, and biochemical studies in two siblings, Eur J Pediatr 139:142.
-
(1982)
Eur J Pediatr
, vol.139
, pp. 142
-
-
Tondeur, M.1
Libert, J.2
Vamos, E.3
Van Hoof, F.4
Thomas, G.H.5
Strecker, G.6
-
45
-
-
0023000357
-
Prenatal diagnosis and confirmation of infantile sialic acid storage disease
-
Vamos, E., Libert, J., Elkhazen, N., Jauniaux, E., Hustin, J., Wilkin, P., Baumkotter, J., Mendla, K., Cantz, M., and Strecker, G., 1986, Prenatal diagnosis and confirmation of infantile sialic acid storage disease, Prenat Diagn 6:437.
-
(1986)
Prenat Diagn
, vol.6
, pp. 437
-
-
Vamos, E.1
Libert, J.2
Elkhazen, N.3
Jauniaux, E.4
Hustin, J.5
Wilkin, P.6
Baumkotter, J.7
Mendla, K.8
Cantz, M.9
Strecker, G.10
-
46
-
-
0343192508
-
Central and peripheral nervous system dysfunction in the clinical variation of Salla disease
-
Varho, T., Jaaskelainen, S., Tolonen, U., Sonninen, P., Vainionpaa, L., Aula, P., and Sillanpaa, M., 2000, Central and peripheral nervous system dysfunction in the clinical variation of Salla disease, Neurology 55:99.
-
(2000)
Neurology
, vol.55
, pp. 99
-
-
Varho, T.1
Jaaskelainen, S.2
Tolonen, U.3
Sonninen, P.4
Vainionpaa, L.5
Aula, P.6
Sillanpaa, M.7
-
47
-
-
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., Sillanpaa, M., Aula, P., and Lundbom, N., 1999, A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease. Neurology 52:1668.
-
(1999)
Neurology
, vol.52
, pp. 1668
-
-
Varho, T.1
Komu, M.2
Sonninen, P.3
Holopainen, I.4
Nyman, S.5
Manner, T.6
Sillanpaa, M.7
Aula, P.8
Lundbom, N.9
-
48
-
-
0036242576
-
Phenotypic spectrum of Salla disease, a free sialic acid storage disorder
-
Varho, T. T., Alajoki, L. E., Posti, K. M., Korhonen, T. T., Renlund, M. G., Nyman, S. R., Sillanpaa, M. L., and Aula, P. P., 2002, Phenotypic spectrum of Salla disease, a free sialic acid storage disorder, Pediatr Neurol 26:267.
-
(2002)
Pediatr Neurol
, vol.26
, pp. 267
-
-
Varho, T.T.1
Alajoki, L.E.2
Posti, K.M.3
Korhonen, T.T.4
Renlund, M.G.5
Nyman, S.R.6
Sillanpaa, M.L.7
Aula, P.P.8
-
49
-
-
0032706624
-
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases
-
Verheijen, F. W., Verbeek, E., Aula, N., Beerens, C. E., Havelaar, A. C., Joosse, M., Peltonen, L., Aula, P., Galjaard, H., van der Spek, P. J., and Mancini, G. M., 1999, A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases, Nat Genet 23:462.
-
(1999)
Nat Genet
, vol.23
, pp. 462
-
-
Verheijen, F.W.1
Verbeek, E.2
Aula, N.3
Beerens, C.E.4
Havelaar, A.C.5
Joosse, M.6
Peltonen, L.7
Aula, P.8
Galjaard, H.9
Van Der Spek, P.J.10
Mancini, G.M.11
-
50
-
-
0024443846
-
Identification of the metabolic defect in sialuria
-
Weiss, P., Tietze, F., Gahl, W., Seppala, R., and Ashwell, G., 1989, Identification of the metabolic defect in sialuria, J Biol Chem 264:17635.
-
(1989)
J Biol Chem
, vol.264
, pp. 17635
-
-
Weiss, P.1
Tietze, F.2
Gahl, W.3
Seppala, R.4
Ashwell, G.5
-
51
-
-
12544255190
-
Varied mechanisms underlie the free sialic acid storage disorders
-
Wreden, C. C., Wlizla, M., and Reimer, R. J., 2005, Varied mechanisms underlie the free sialic acid storage disorders, J Biol Chem 280:1408.
-
(2005)
J Biol Chem
, vol.280
, pp. 1408
-
-
Wreden, C.C.1
Wlizla, M.2
Reimer, R.J.3
|