-
1
-
-
0030993576
-
Sialic acids as ligands in recognition phenomena
-
Varki, A. (1997) Sialic acids as ligands in recognition phenomena. FASEB J. 11, 248-255
-
(1997)
FASEB J
, vol.11
, pp. 248-255
-
-
Varki, A.1
-
2
-
-
34247565506
-
Glycan-based interactions involving vertebrate sialic-acid-recognizing proteins
-
Varki, A. (2007) Glycan-based interactions involving vertebrate sialic-acid-recognizing proteins. Nature 446, 1023-1029
-
(2007)
Nature
, vol.446
, pp. 1023-1029
-
-
Varki, A.1
-
3
-
-
0014191775
-
Description of a new type of melituria: Sialuria
-
Montreuil, J., Biserte, G., Strecker, G., Spik, G., Fontaine, G., and Farriaux, J. P. (1967) Description of a new type of melituria: sialuria. C. R. Acad. Sci. Hebd. Seances Acad. Sci. D 265, 97-99
-
(1967)
C. R. Acad. Sci. Hebd. Seances Acad. Sci. D
, vol.265
, pp. 97-99
-
-
Montreuil, J.1
Biserte, G.2
Strecker, G.3
Spik, G.4
Fontaine, G.5
Farriaux, J.P.6
-
4
-
-
0027314418
-
Clinical and biochemical studies in an American child with sialuria
-
Krasnewich, D. M., Tietze, F., Krause, W., Pretzlaff, R., Wenger, D. A., Diwadkar, V., and Gahl, W. A. (1993) Clinical and biochemical studies in an American child with sialuria. Biochem. Med. Metab. Biol. 49, 90-96
-
(1993)
Biochem. Med. Metab. Biol
, vol.49
, pp. 90-96
-
-
Krasnewich, D.M.1
Tietze, F.2
Krause, W.3
Pretzlaff, R.4
Wenger, D.A.5
Diwadkar, V.6
Gahl, W.A.7
-
5
-
-
0034923851
-
Clinical course and biochemistry of sialuria
-
Enns, G. M., Seppala, R., Musci, T. J., Weisiger, K., Ferrell, L. D., Wenger, D. A., Gahl, W. A., and Packman, S. (2001) Clinical course and biochemistry of sialuria. J. Inherit. Metab. Dis. 24, 328-336
-
(2001)
J. Inherit. Metab. Dis
, vol.24
, pp. 328-336
-
-
Enns, G.M.1
Seppala, R.2
Musci, T.J.3
Weisiger, K.4
Ferrell, L.D.5
Wenger, D.A.6
Gahl, W.A.7
Packman, S.8
-
6
-
-
0025867020
-
Sialic acid metabolism in sialuria fibroblasts
-
Seppala, R., Tietze, F., Krasnewich, D., Weiss, P., Ashwell, G., Barsh, G., Thomas, G. H., Packman, S., and Gahl, W. A. (1991) Sialic acid metabolism in sialuria fibroblasts. J. Biol. Chem. 266, 7456-7461
-
(1991)
J. Biol. Chem
, vol.266
, pp. 7456-7461
-
-
Seppala, R.1
Tietze, F.2
Krasnewich, D.3
Weiss, P.4
Ashwell, G.5
Barsh, G.6
Thomas, G.H.7
Packman, S.8
Gahl, W.A.9
-
7
-
-
0032783547
-
Sialuria in a Portuguese girl: Clinical, biochemical, and molecular characteristics
-
Ferreira, H., Seppala, R., Pinto, R., Huizing, M., Martins, E., Braga, A. C., Gomes, L., Krasnewich, D. M., Sa Miranda, M. C., and Gahl, W. A. (1999) Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics. Mol. Genet. Metab. 67, 131-137
-
(1999)
Mol. Genet. Metab
, vol.67
, pp. 131-137
-
-
Ferreira, H.1
Seppala, R.2
Pinto, R.3
Huizing, M.4
Martins, E.5
Braga, A.C.6
Gomes, L.7
Krasnewich, D.M.8
Sa Miranda, M.C.9
Gahl, W.A.10
-
8
-
-
0024443846
-
Identification of the metabolic defect in sialuria
-
Weiss, P., Tietze, F., Gahl, W. A., Seppala, R., and Ashwell, G. (1989) Identification of the metabolic defect in sialuria. J. Biol. Chem. 264, 17635-17636
-
(1989)
J. Biol. Chem
, vol.264
, pp. 17635-17636
-
-
Weiss, P.1
Tietze, F.2
Gahl, W.A.3
Seppala, R.4
Ashwell, G.5
-
9
-
-
0030827128
-
A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver: Purification and characterization of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
-
Hinderlich, S., Stäsche, R., Zeitler, R., and Reutter, W. (1997) A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver: purification and characterization of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. J. Biol. Chem. 272, 24313-24318
-
(1997)
J. Biol. Chem
, vol.272
, pp. 24313-24318
-
-
Hinderlich, S.1
Stäsche, R.2
Zeitler, R.3
Reutter, W.4
-
10
-
-
0039546871
-
Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme
-
Seppala, R., Lehto, V. P., and Gahl, W. A. (1999) Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme. Am. J. Hum. Genet. 64, 1563-1569
-
(1999)
Am. J. Hum. Genet
, vol.64
, pp. 1563-1569
-
-
Seppala, R.1
Lehto, V.P.2
Gahl, W.A.3
-
11
-
-
33645079148
-
Disease mechanisms associated with mutations of the GNE gene
-
Huizing, M. (2005) Disease mechanisms associated with mutations of the GNE gene. Drug Disc. Today 2, 519-527
-
(2005)
Drug Disc. Today
, vol.2
, pp. 519-527
-
-
Huizing, M.1
-
12
-
-
0034981941
-
Dominant inheritance of sialuria, an inborn error of feedback inhibition
-
Leroy, J. G., Seppala, R., Huizing, M., Dacremont, G., De Simpel, H., Van Coster, R. N., Orvisky, E., Krasnewich, D. M., and Gahl, W. A. (2001) Dominant inheritance of sialuria, an inborn error of feedback inhibition. Am. J. Hum. Genet. 68, 1419-1427
-
(2001)
Am. J. Hum. Genet
, vol.68
, pp. 1419-1427
-
-
Leroy, J.G.1
Seppala, R.2
Huizing, M.3
Dacremont, G.4
De Simpel, H.5
Van Coster, R.N.6
Orvisky, E.7
Krasnewich, D.M.8
Gahl, W.A.9
-
13
-
-
0032493123
-
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene
-
Stanley, C. A., Lieu, Y. K., Hsu, B. Y., Burlina, A. B., Greenberg, C. R., Hopwood, N. J., Perlman, K., Rich, B. H., Zammarchi, E., and Poncz, M. (1998) Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N. Engl. J. Med. 338, 1352-1357
-
(1998)
N. Engl. J. Med
, vol.338
, pp. 1352-1357
-
-
Stanley, C.A.1
Lieu, Y.K.2
Hsu, B.Y.3
Burlina, A.B.4
Greenberg, C.R.5
Hopwood, N.J.6
Perlman, K.7
Rich, B.H.8
Zammarchi, E.9
Poncz, M.10
-
14
-
-
0036534464
-
Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations
-
Fang, J., Hsu, B. Y., MacMullen, C. M., Poncz, M., Smith, T. J., and Stanley, C. A. (2002) Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations. Biochem. J. 363, 81-87
-
(2002)
Biochem. J
, vol.363
, pp. 81-87
-
-
Fang, J.1
Hsu, B.Y.2
MacMullen, C.M.3
Poncz, M.4
Smith, T.J.5
Stanley, C.A.6
-
15
-
-
0029786659
-
Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase
-
Becker, M. A., Taylor, W., Smith, P. R., and Ahmed, M. (1996) Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase. J. Biol. Chem. 271, 19894-19899
-
(1996)
J. Biol. Chem
, vol.271
, pp. 19894-19899
-
-
Becker, M.A.1
Taylor, W.2
Smith, P.R.3
Ahmed, M.4
-
16
-
-
0141886425
-
Allele-specific silencing of a pathogenic mutant acetylcholine receptor subunit by RNA interference
-
Abdelgany, A., Wood, M., and Beeson, D. (2003) Allele-specific silencing of a pathogenic mutant acetylcholine receptor subunit by RNA interference. Hum. Mol. Genet. 12, 2637-2644
-
(2003)
Hum. Mol. Genet
, vol.12
, pp. 2637-2644
-
-
Abdelgany, A.1
Wood, M.2
Beeson, D.3
-
17
-
-
0038132996
-
Allele-specific silencing of dominant disease genes
-
Miller, V. M., Xia, H., Marrs, G. L., Gouvion, C. M., Lee, G., Davidson, B. L., and Paulson, H. L. (2003) Allele-specific silencing of dominant disease genes. Proc. Natl. Acad. Sci. U. S. A. 100, 7195-7200
-
(2003)
Proc. Natl. Acad. Sci. U. S. A
, vol.100
, pp. 7195-7200
-
-
Miller, V.M.1
Xia, H.2
Marrs, G.L.3
Gouvion, C.M.4
Lee, G.5
Davidson, B.L.6
Paulson, H.L.7
-
18
-
-
29244434389
-
Transgenic small interfering RNA halts amyotrophic lateral sclerosis in a mouse model
-
Saito, Y., Yokota, T., Mitani, T., Ito, K., Anzai, M., Miyagishi, M., Taira, K., and Mizusawa, H. (2005) Transgenic small interfering RNA halts amyotrophic lateral sclerosis in a mouse model. J. Biol. Chem. 280, 42826-42830
-
(2005)
J. Biol. Chem
, vol.280
, pp. 42826-42830
-
-
Saito, Y.1
Yokota, T.2
Mitani, T.3
Ito, K.4
Anzai, M.5
Miyagishi, M.6
Taira, K.7
Mizusawa, H.8
-
19
-
-
33645160450
-
Allele-specific RNA interference for neurological disease
-
Rodriguez-Lebron, E., and Paulson, H. L. (2006) Allele-specific RNA interference for neurological disease. Gene Ther. 13, 576-581
-
(2006)
Gene Ther
, vol.13
, pp. 576-581
-
-
Rodriguez-Lebron, E.1
Paulson, H.L.2
-
20
-
-
3442876231
-
Comparative Ct method
-
ABI Prism 7700 Sequence Detection System, PE Applied Biosystems, Foster City, CA, USA
-
Livak, K. J. (1997) Comparative Ct method. ABI Prism 7700 Sequence Detection System. User Bulletin 2, PE Applied Biosystems, Foster City, CA, USA
-
(1997)
User Bulletin
, vol.2
-
-
Livak, K.J.1
-
21
-
-
0141976361
-
Use of real-time RT-PCR for the detection of allelic expression of an imprinted gene
-
Suda, T., Katoh, M., Hiratsuka, M., Fujiwara, M., Irizawa, Y., and Oshimura, M. (2003) Use of real-time RT-PCR for the detection of allelic expression of an imprinted gene. Int. J. Mol. Med. 12, 243-246
-
(2003)
Int. J. Mol. Med
, vol.12
, pp. 243-246
-
-
Suda, T.1
Katoh, M.2
Hiratsuka, M.3
Fujiwara, M.4
Irizawa, Y.5
Oshimura, M.6
-
22
-
-
27944459314
-
Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy
-
Sparks, S. E., Ciccone, C., Lalor, M., Orvisky, E., Klootwijk, R., Savelkoul, P. J., Dalakas, M. C., Krasnewich, D. M., Gahl, W. A., and Huizing, M. (2005) Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy. Glycobiology 15, 1102-1110
-
(2005)
Glycobiology
, vol.15
, pp. 1102-1110
-
-
Sparks, S.E.1
Ciccone, C.2
Lalor, M.3
Orvisky, E.4
Klootwijk, R.5
Savelkoul, P.J.6
Dalakas, M.C.7
Krasnewich, D.M.8
Gahl, W.A.9
Huizing, M.10
-
23
-
-
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, 385-391
-
(1999)
Am. J. Med. Genet
, vol.82
, pp. 385-391
-
-
Lemyre, E.1
Russo, P.2
Melancon, S.B.3
Gagne, R.4
Potier, M.5
Lambert, M.6
-
24
-
-
34347246364
-
RNA interference-mediated suppression and replacement of human rhodopsin in vivo
-
O'Reilly, M., Palfi, A., Chadderton, N., Millington-Ward, S., Ader, M., Cronin, T., Tuohy, T., Auricchio, A., Hildinger, M., Tivnan, A., McNally, N., Humphries, M. M., Kiang, A. S., Humphries, P., and Farrar, G. J. (2007) RNA interference-mediated suppression and replacement of human rhodopsin in vivo. Am. J. Hum. Genet. 81, 127-135
-
(2007)
Am. J. Hum. Genet
, vol.81
, pp. 127-135
-
-
O'Reilly, M.1
Palfi, A.2
Chadderton, N.3
Millington-Ward, S.4
Ader, M.5
Cronin, T.6
Tuohy, T.7
Auricchio, A.8
Hildinger, M.9
Tivnan, A.10
McNally, N.11
Humphries, M.M.12
Kiang, A.S.13
Humphries, P.14
Farrar, G.J.15
-
25
-
-
0242379146
-
Selective silencing by RNAi of a dominant allele that causes amyotrophic lateral sclerosis
-
Ding, H., Schwarz, D. S., Keene, A., el Affar, B., Fenton, L., Xia, X., Shi, Y., Zamore, P. D., and Xu, Z. (2003) Selective silencing by RNAi of a dominant allele that causes amyotrophic lateral sclerosis. Aging Cell 2, 209-217
-
(2003)
Aging Cell
, vol.2
, pp. 209-217
-
-
Ding, H.1
Schwarz, D.S.2
Keene, A.3
el Affar, B.4
Fenton, L.5
Xia, X.6
Shi, Y.7
Zamore, P.D.8
Xu, Z.9
-
26
-
-
1542267797
-
RNA interference-mediated silencing of mutant superoxide dismutase rescues cyclosporin A-induced death in cultured neuroblastoma cells
-
Maxwell, M. M., Pasinelli, P., Kazantsev, A. G., and Brown, R. H., Jr. (2004) RNA interference-mediated silencing of mutant superoxide dismutase rescues cyclosporin A-induced death in cultured neuroblastoma cells. Proc. Natl. Acad. Sci. U. S. A. 101, 3178-3183
-
(2004)
Proc. Natl. Acad. Sci. U. S. A
, vol.101
, pp. 3178-3183
-
-
Maxwell, M.M.1
Pasinelli, P.2
Kazantsev, A.G.3
Brown Jr., R.H.4
-
27
-
-
33747201641
-
Allele-specific RNAi selectively silences mutant SOD1 and achieves significant therapeutic benefit in vivo
-
Xia, X., Zhou, H., Huang, Y., and Xu, Z. (2006) Allele-specific RNAi selectively silences mutant SOD1 and achieves significant therapeutic benefit in vivo. Neurobiol. Dis. 23, 578-586
-
(2006)
Neurobiol. Dis
, vol.23
, pp. 578-586
-
-
Xia, X.1
Zhou, H.2
Huang, Y.3
Xu, Z.4
-
28
-
-
27744533560
-
Silencing primary dystonia: Lentiviral-mediated RNA interference therapy for DYT1 dystonia
-
Gonzalez-Alegre, P., Bode, N., Davidson, B. L., and Paulson, H. L. (2005) Silencing primary dystonia: lentiviral-mediated RNA interference therapy for DYT1 dystonia. J. Neurosci. 25, 10502-10509
-
(2005)
J. Neurosci
, vol.25
, pp. 10502-10509
-
-
Gonzalez-Alegre, P.1
Bode, N.2
Davidson, B.L.3
Paulson, H.L.4
-
29
-
-
34548371795
-
RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis
-
Shukla, V., Coumoul, X., Wang, R. H., Kim, H. S., and Deng, C. X. (2007) RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis. Nat. Genet. 39, 1145-1150
-
(2007)
Nat. Genet
, vol.39
, pp. 1145-1150
-
-
Shukla, V.1
Coumoul, X.2
Wang, R.H.3
Kim, H.S.4
Deng, C.X.5
-
30
-
-
0028785416
-
The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity
-
Becker, M. A., Smith, P. R., Taylor, W., Mustafi, R., and Switzer, R. L. (1995) The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity. J. Clin. Invest. 96, 2133-2141
-
(1995)
J. Clin. Invest
, vol.96
, pp. 2133-2141
-
-
Becker, M.A.1
Smith, P.R.2
Taylor, W.3
Mustafi, R.4
Switzer, R.L.5
-
31
-
-
34748906143
-
Antisense-mediated exon skipping: A versatile tool with therapeutic and research applications
-
Aartsma-Rus, A., and van Ommen, G. J. (2007) Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications. RNA 13, 1609-1624
-
(2007)
RNA
, vol.13
, pp. 1609-1624
-
-
Aartsma-Rus, A.1
van Ommen, G.J.2
-
32
-
-
36849087968
-
Therapeutic application of RNAi: Is mRNA targeting finally ready for prime time?
-
Grimm, D., and Kay, M. A. (2007) Therapeutic application of RNAi: is mRNA targeting finally ready for prime time? J. Clin. Invest. 117, 3633-3641
-
(2007)
J. Clin. Invest
, vol.117
, pp. 3633-3641
-
-
Grimm, D.1
Kay, M.A.2
-
33
-
-
0036787671
-
siRNA-mediated gene silencing in vitro and in vivo
-
Xia, H., Mao, Q., Paulson, H. L., and Davidson, B. L. (2002) siRNA-mediated gene silencing in vitro and in vivo. Nat. Biotechnol. 20, 1006-1010
-
(2002)
Nat. Biotechnol
, vol.20
, pp. 1006-1010
-
-
Xia, H.1
Mao, Q.2
Paulson, H.L.3
Davidson, B.L.4
-
34
-
-
25144464388
-
Intrastriatal rAAV-mediated delivery of antihuntingtin shRNAs induces partial reversal of disease progression in R6/1 Huntington's disease transgenic mice
-
Rodriguez-Lebron, E., Denovan-Wright, E. M., Nash, K., Lewin, A. S., and Mandel, R. J. (2005) Intrastriatal rAAV-mediated delivery of antihuntingtin shRNAs induces partial reversal of disease progression in R6/1 Huntington's disease transgenic mice. Mol. Ther. 12, 618-633
-
(2005)
Mol. Ther
, vol.12
, pp. 618-633
-
-
Rodriguez-Lebron, E.1
Denovan-Wright, E.M.2
Nash, K.3
Lewin, A.S.4
Mandel, R.J.5
-
35
-
-
23744485151
-
Towards mutation-independent silencing of genes involved in retinal degeneration by RNA interference
-
Cashman, S. M., Binkley, E. A., and Kumar-Singh, R. (2005) Towards mutation-independent silencing of genes involved in retinal degeneration by RNA interference. Gene Ther. 12, 1223-1228
-
(2005)
Gene Ther
, vol.12
, pp. 1223-1228
-
-
Cashman, S.M.1
Binkley, E.A.2
Kumar-Singh, R.3
-
36
-
-
36649027868
-
-
Birchall, J. (2007) Pulmonary delivery of nucleic acids. Expert Opin. Drug Deliv. 4, 575-578
-
Birchall, J. (2007) Pulmonary delivery of nucleic acids. Expert Opin. Drug Deliv. 4, 575-578
-
-
-
-
37
-
-
4644302416
-
Noninvasive delivery of small inhibitory RNA and other reagents to pulmonary alveoli in mice
-
Massaro, D., Massaro, G. D., and Clerch, L. B. (2004) Noninvasive delivery of small inhibitory RNA and other reagents to pulmonary alveoli in mice. Am. J. Physiol. 287, L1066-L1070
-
(2004)
Am. J. Physiol
, vol.287
-
-
Massaro, D.1
Massaro, G.D.2
Clerch, L.B.3
-
38
-
-
39149111247
-
Single-nucleotide-specific siRNA targeting in a dominant-negative skin model
-
Hickerson, R. P., Smith, F. J., Reeves, R. E., Contag, C. H., Leake, D., Leachman, S. A., Milstone, L. M., McLean, W. H., and Kaspar, R. L. (2008) Single-nucleotide-specific siRNA targeting in a dominant-negative skin model. J. Invest. Dermatol. 128, 594-605
-
(2008)
J. Invest. Dermatol
, vol.128
, pp. 594-605
-
-
Hickerson, R.P.1
Smith, F.J.2
Reeves, R.E.3
Contag, C.H.4
Leake, D.5
Leachman, S.A.6
Milstone, L.M.7
McLean, W.H.8
Kaspar, R.L.9
-
39
-
-
33846929162
-
Therapeutic RNA interference of malignant melanoma by electrotransfer of small interfering RNA targeting Mitf
-
Nakai, N., Kishida, T., Shin-Ya, M., Imanishi, J., Ueda, Y., Kishimoto, S., and Mazda, O. (2007) Therapeutic RNA interference of malignant melanoma by electrotransfer of small interfering RNA targeting Mitf. Gene Ther. 14, 357-365
-
(2007)
Gene Ther
, vol.14
, pp. 357-365
-
-
Nakai, N.1
Kishida, T.2
Shin-Ya, M.3
Imanishi, J.4
Ueda, Y.5
Kishimoto, S.6
Mazda, O.7
-
40
-
-
34249986315
-
-
Gaither, L. A. (2007) Chemogenomics approaches to novel target discovery. Expert Rev. Proteomics 4, 411-419
-
Gaither, L. A. (2007) Chemogenomics approaches to novel target discovery. Expert Rev. Proteomics 4, 411-419
-
-
-
-
41
-
-
34250621337
-
Chemical genetics: Elucidating biological systems with small-molecule compounds
-
Kawasumi, M., and Nghiem, P. (2007) Chemical genetics: elucidating biological systems with small-molecule compounds. J. Invest. Dermatol. 127, 1577-1584
-
(2007)
J. Invest. Dermatol
, vol.127
, pp. 1577-1584
-
-
Kawasumi, M.1
Nghiem, P.2
-
42
-
-
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, 462-465
-
(1999)
Nat. Genet
, vol.23
, pp. 462-465
-
-
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
-
43
-
-
55549129606
-
Lysosomal free sialic acid storage disorders: Salla disease and ISSD
-
Barranger, J. A, and Cabrera, M, eds pp, Springer, New York, NY, USA
-
Helip-Wooley, A., Kleta, R., and Gahl, W. A. (2007) Lysosomal free sialic acid storage disorders: Salla disease and ISSD. In Lysosomal Storage Diseases (Barranger, J. A., and Cabrera, M., eds) pp. 499-511, Springer, New York, NY, USA
-
(2007)
Lysosomal Storage Diseases
, pp. 499-511
-
-
Helip-Wooley, A.1
Kleta, R.2
Gahl, W.A.3
|