-
1
-
-
0015804158
-
α-L-iduronidaze activity in cultured skin fibroblasts and amniotic fluid cells
-
Hall CW, Neufeld EF. 1973. α-L-iduronidaze activity in cultured skin fibroblasts and amniotic fluid cells. Arch Biochem Biophys 158:817-821.
-
(1973)
Arch Biochem Biophys
, vol.158
, pp. 817-821
-
-
Hall, C.W.1
Neufeld, E.F.2
-
2
-
-
0033888320
-
Impaired elastogenesis in Hurler disease: Dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly
-
Hinek A, Wilson SE. 2000. Impaired elastogenesis in Hurler disease: Dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly. Am J Pathol 156:925-938.
-
(2000)
Am J Pathol
, vol.156
, pp. 925-938
-
-
Hinek, A.1
Wilson, S.E.2
-
3
-
-
0025666525
-
The mucopolysaccharidoses: Diagnosis, molecular genetics and treatment
-
Hopwood JJ, Morris CP. 1990. The mucopolysaccharidoses: Diagnosis, molecular genetics and treatment. Mol Biol Med 7:381-404.
-
(1990)
Mol Biol Med
, vol.7
, pp. 381-404
-
-
Hopwood, J.J.1
Morris, C.P.2
-
4
-
-
0037906571
-
Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I
-
Kakavanos R, Turner CT, Hopwood JJ, Kakkis ED, Brooks DA. 2003. Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I. Lancet 361:1608-1613.
-
(2003)
Lancet
, vol.361
, pp. 1608-1613
-
-
Kakavanos, R.1
Turner, C.T.2
Hopwood, J.J.3
Kakkis, E.D.4
Brooks, D.A.5
-
5
-
-
0035999743
-
Enzyme replacement therapy for the mucopolysaccharide storage disorders
-
Kakkis ED. 2002. Enzyme replacement therapy for the mucopolysaccharide storage disorders. Expert Opin Investig Drugs 11:675-685.
-
(2002)
Expert Opin Investig Drugs
, vol.11
, pp. 675-685
-
-
Kakkis, E.D.1
-
6
-
-
0035905889
-
Enzyme-replacement therapy in mucopolysaccharidosis I
-
Kakkis ED, Muenzer J, Tiller GE, Waber L, Belmont J, Passage M, Izykowski B, Philips J, Doroshow R, Walot I, Hoft R, Neufeld EF. 2001. Enzyme-replacement therapy in mucopolysaccharidosis I. New Eng J Med 344:182-188.
-
(2001)
New Eng J Med
, vol.344
, pp. 182-188
-
-
Kakkis, E.D.1
Muenzer, J.2
Tiller, G.E.3
Waber, L.4
Belmont, J.5
Passage, M.6
Izykowski, B.7
Philips, J.8
Doroshow, R.9
Walot, I.10
Hoft, R.11
Neufeld, E.F.12
-
7
-
-
0000869162
-
The mucopolysaccharidoses
-
Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New York: McGraw-Hill Co.
-
Neufeld EF, Muenzer J. 2001. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill Co. p 3421-3452.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3421-3452
-
-
Neufeld, E.F.1
Muenzer, J.2
-
8
-
-
0017260721
-
A review and selection of simple laboratory methods used for the study of glycosaminoglycan excretion and the diagnosis of mucopolysaccharidoses
-
Pennock CA. 1976. A review and selection of simple laboratory methods used for the study of glycosaminoglycan excretion and the diagnosis of mucopolysaccharidoses. J Clin Pathol 29:111-123.
-
(1976)
J Clin Pathol
, vol.29
, pp. 111-123
-
-
Pennock, C.A.1
-
9
-
-
0021998174
-
The clinical spectrum of α-L-iduronidase deficiency
-
Roubicek M, Gehler J, Spranger J. 1985. The clinical spectrum of α-L-iduronidase deficiency. Am J Med Genet 20:471-481.
-
(1985)
Am J Med Genet
, vol.20
, pp. 471-481
-
-
Roubicek, M.1
Gehler, J.2
Spranger, J.3
-
10
-
-
2542505572
-
A general model for genetic regulation of turnover of glycosaminoglycans suggests a possible procedure for prediction of severity and clinical progress of mucopolysaccharidoses
-
Wȩgrzyn G, Wȩgrzyn A, Tylki-Szymańska A. 2004. A general model for genetic regulation of turnover of glycosaminoglycans suggests a possible procedure for prediction of severity and clinical progress of mucopolysaccharidoses. Med Hypoth 62:986-992.
-
(2004)
Med Hypoth
, vol.62
, pp. 986-992
-
-
Wȩgrzyn, G.1
Wȩgrzyn, A.2
Tylki-Szymańska, A.3
-
11
-
-
0035000479
-
Enzyme replacement therapy in mucopolysacchariodosis type I: Progress and emerging difficulties
-
Wraith JE. 2001. Enzyme replacement therapy in mucopolysacchariodosis type I: Progress and emerging difficulties. J Inherit Metab Dis 24:245-250.
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 245-250
-
-
Wraith, J.E.1
-
12
-
-
2342666229
-
Enzyme replacement therapy for mucopolysaccharidosis I: A randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (Laronidase)
-
Wraith JE, Clarke LA, Beck M, Kolodny EH, Pastores GM, Muenzer J, Rapoport DM, Berger KI, Swiedler SJ, Kakkis ED, Braakman T, Chadbourne E, Walton-Bowen K, Cox GF. 2004. Enzyme replacement therapy for mucopolysaccharidosis I: A randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (Laronidase). J Pediatr 144:581-588.
-
(2004)
J Pediatr
, vol.144
, pp. 581-588
-
-
Wraith, J.E.1
Clarke, L.A.2
Beck, M.3
Kolodny, E.H.4
Pastores, G.M.5
Muenzer, J.6
Rapoport, D.M.7
Berger, K.I.8
Swiedler, S.J.9
Kakkis, E.D.10
Braakman, T.11
Chadbourne, E.12
Walton-Bowen, K.13
Cox, G.F.14
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