-
1
-
-
0000869162
-
The metabolic and molecular bases of inherited disease
-
In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New York: McGraw-Hill
-
Neufeld EF, Meunzer J. The metabolic and molecular bases of inherited disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The mucopolysaccharidoses, New York: McGraw-Hill, 2001:3421-52.
-
(2001)
The Mucopolysaccharidoses
, pp. 3421-52
-
-
Neufeld, E.F.1
Meunzer, J.2
-
2
-
-
33747209013
-
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)
-
Muenzer J, Wraith, JE, Beck M, Giugliani R, Harmatz P, Eng CM, et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med 2006;8:465-73.
-
(2006)
Genet Med
, vol.8
, pp. 465-73
-
-
Muenzer, J.1
Wraith, J.E.2
Beck, M.3
Giugliani, R.4
Harmatz, P.5
Eng, C.M.6
-
3
-
-
70249125854
-
Guidelines for the management of mucopolysaccharidosis type i
-
Martins AM, Dualibi AP, Norato D, Takata ET, Santos ES, Valadares ER, et al. Guidelines for the management of mucopolysaccharidosis type I. J Pediatr 2009;155(4 Suppl):S32-46.
-
(2009)
J Pediatr
, vol.155
, Issue.4 SUPPL.
-
-
Martins, A.M.1
Dualibi, A.P.2
Norato, D.3
Takata, E.T.4
Santos, E.S.5
Valadares, E.R.6
-
4
-
-
4544254425
-
Gene therapy for lysosomal storage diseases: The lessons and promise of animal models
-
DOI 10.1002/jgm.581
-
Ellinwood NM, Vite CH, Haskins ME. Gene therapy for lysosomal storage diseases: the lessons and promise of animal models. J Gene Med 2004;6:481-506. (Pubitemid 40228065)
-
(2004)
Journal of Gene Medicine
, vol.6
, Issue.5
, pp. 481-506
-
-
Ellinwood, N.M.1
Vite, C.H.2
Haskins, M.E.3
-
5
-
-
77955456865
-
Comparison of cetylpyridinium chloride and cetyltrimethylammonium bromide extractive procedures for quantifi cation and characterization of human urinary glycosaminoglycans
-
Buzzega D, Pederzoli F, Maccari F, Aslan D, Türk M, Volpi N. Comparison of cetylpyridinium chloride and cetyltrimethylammonium bromide extractive procedures for quantifi cation and characterization of human urinary glycosaminoglycans. Clin Chem Lab Med 2010;48:1133-9.
-
(2010)
Clin Chem Lab Med
, vol.48
, pp. 1133-9
-
-
Buzzega, D.P.1
-
6
-
-
0036962572
-
Detection of submicrogram quantities of glycosaminoglycans on agarose gels by sequential staining with toluidine blue and Stains-All
-
DOI 10.1002/elps.200290021
-
Volpi N, Maccari F. Detection of submicrogram quantities of glycosaminoglycans on agarose gels by sequential staining with toluidine blue and stains-all. Electrophoresis 2002;23: 4060-6. (Pubitemid 36131458)
-
(2002)
Electrophoresis
, vol.23
, Issue.24
, pp. 4060-4066
-
-
Volpi, N.1
Maccari, F.2
-
7
-
-
84855238539
-
Fine structural characterization of chondroitin sulfate in urine of bladder pain syndrome subjects
-
Maccari F, Buzzega D, Galeotti F, Volpi N. Fine structural characterization of chondroitin sulfate in urine of bladder pain syndrome subjects. Int Urogynecol J 2011;83: 6770-7.
-
(2011)
Int Urogynecol J
, vol.83
, pp. 6770-7
-
-
MacCari, F.1
Buzzega, D.2
Galeotti, F.3
Volpi, N.4
-
8
-
-
33846914886
-
Reliability of 1,9-dimethylmethylene blue tests in comparison to agarose gel electrophoresis for quantification of urinary glycosaminoglycans
-
DOI 10.1016/j.cca.2006.11.025, PII S0009898106007893
-
de Lima CR, Baccarin RY, Michelacci YM. Reliability of 1,9- dimethylmethylene blue tests in comparison to agarose gel electrophoresis for quantifi cation of urinary glycosaminoglycans. Clin Chim Acta 2007;378:206-15. (Pubitemid 46241081)
-
(2007)
Clinica Chimica Acta
, vol.378
, Issue.1-2
, pp. 206-215
-
-
De Lima, C.R.1
Baccarin, R.Y.A.2
Michelacci, Y.M.3
-
9
-
-
79951577171
-
High-throughput determination of urinary hexosamines for diagnosis of mucopolysaccharidoses by capillary electrophoresis and high-performance liquid chromatography
-
Coppa GV, Galeotti F, Zampini L, Maccari F, Galeazzi T, Padelia L, et al. High-throughput determination of urinary hexosamines for diagnosis of mucopolysaccharidoses by capillary electrophoresis and high-performance liquid chromatography. Anal Biochem 2011;411:32-42.
-
(2011)
Anal Biochem
, vol.411
, pp. 32-42
-
-
Coppa, G.V.1
Galeotti, F.2
Zampini, L.3
MacCari, F.4
Galeazzi, T.5
Padelia, L.6
-
10
-
-
33746284598
-
Newborn screening for lysosomal storage disorders
-
DOI 10.1016/j.ymgme.2006.02.013, PII S109671920600076X
-
Meikle PJ, Grasby DJ, Dean CJ, Lang DL, Bockmann M, Whittle AM, et al. Newborn screening for lysosomal storage disorders. Mol Genet Metab 2006;88:307-14. (Pubitemid 44107765)
-
(2006)
Molecular Genetics and Metabolism
, vol.88
, Issue.4
, pp. 307-314
-
-
Meikle, P.J.1
Grasby, D.J.2
Dean, C.J.3
Lang, D.L.4
Bockmann, M.5
Whittle, A.M.6
Fietz, M.J.7
Simonsen, H.8
Fuller, M.9
Brooks, D.A.10
Hopwood, J.J.11
|