-
1
-
-
0000869162
-
The mucopolysaccharidoses
-
Scriver C.R., Beaudet A.L., Sly W.S., et al. (Eds), McGraw-Hill, New York
-
Neufeld E.F., and Muenzer J. The mucopolysaccharidoses. In: Scriver C.R., Beaudet A.L., Sly W.S., et al. (Eds). The Metabolic and Molecular Basis of Inherited Disease (2001), McGraw-Hill, New York 3421-3452
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 3421-3452
-
-
Neufeld, E.F.1
Muenzer, J.2
-
2
-
-
59449083175
-
Long term efficacy and safety of laronidase in the treatment of mucopolysaccharidoses I
-
Clarke L.A., Wraith J.E., Beck M., et al. Long term efficacy and safety of laronidase in the treatment of mucopolysaccharidoses I. Pediatrics 123 (2009) 229-240
-
(2009)
Pediatrics
, vol.123
, pp. 229-240
-
-
Clarke, L.A.1
Wraith, J.E.2
Beck, M.3
-
3
-
-
0021998174
-
The clinical spectrum of a-l-iduronidase deficiency
-
Roubicek M., Gehler J., and Spranger J. The clinical spectrum of a-l-iduronidase deficiency. Am. J. Med. Genet. 20 (1985) 471-481
-
(1985)
Am. J. Med. Genet.
, vol.20
, pp. 471-481
-
-
Roubicek, M.1
Gehler, J.2
Spranger, J.3
-
4
-
-
0033888320
-
Impaired elastogenesis in Hurler disease. Dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly
-
Hinek A., and Wilson S.E. Impaired elastogenesis in Hurler disease. Dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly. Am. J. Pathol. 156 (2000) 925-938
-
(2000)
Am. J. Pathol.
, vol.156
, pp. 925-938
-
-
Hinek, A.1
Wilson, S.E.2
-
5
-
-
11344295301
-
Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I)
-
Pastores G.M., and Meere P.A. Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I). Curr. Opin. Rheum. 17 (2005) 70-78
-
(2005)
Curr. Opin. Rheum.
, vol.17
, pp. 70-78
-
-
Pastores, G.M.1
Meere, P.A.2
-
6
-
-
38749093729
-
Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases
-
Simonaro C.M., D'Angelo M., He X., Eliyahu E., Shtraizent N., Haskins M.E., and Schuchman E.H. Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases. Am. J. Pathol. 172 (2008) 112-122
-
(2008)
Am. J. Pathol.
, vol.172
, pp. 112-122
-
-
Simonaro, C.M.1
D'Angelo, M.2
He, X.3
Eliyahu, E.4
Shtraizent, N.5
Haskins, M.E.6
Schuchman, E.H.7
-
7
-
-
2342666229
-
Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-l-iduronidase (laronidase)
-
Wraith J.E., Clarke L.A., Beck M., Kolodny E.H., Pastores G.M., Muenzer J., Rapoport D.M., Berger K.I., Swiedler S.J., Kakkis E.D., Braakman T., Chadbourne E., Walton-Bowen K., and Cox G.F. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-l-iduronidase (laronidase). J. Pediatr. 144 (2004) 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
-
8
-
-
0017260721
-
A review and selection of simple laboratory methods used for the study of glycosaminoglycans excretion and the diagnosis of mucopolysaccharidoses
-
Pennock C.A. A review and selection of simple laboratory methods used for the study of glycosaminoglycans excretion and the diagnosis of mucopolysaccharidoses. J. Chem. Pathol. 29 (1976) 111-123
-
(1976)
J. Chem. Pathol.
, vol.29
, pp. 111-123
-
-
Pennock, C.A.1
-
9
-
-
1942428001
-
Dziecko poznanskie. Normy i metody kontroli rozwoju fizycznego
-
third ed, Poznan
-
A. Malinowski, Dziecko poznanskie. Normy i metody kontroli rozwoju fizycznego. Seria antropologia, third ed., Poznan, 1976.
-
(1976)
Seria antropologia
-
-
Malinowski, A.1
-
10
-
-
71649095761
-
-
J. Cieslik, M. Kaczmarek, M.D. Kaliszewska-Drozdowska, Dziecko Poznanskie' 90. Wzrastanie, dojrzewanie, normy i metody rozwoju. (The Poznan Child'90. Growth, Development, Reference standards), Wydawnictwo Naukowe Bogucki, Poznan, 1994.
-
J. Cieslik, M. Kaczmarek, M.D. Kaliszewska-Drozdowska, Dziecko Poznanskie' 90. Wzrastanie, dojrzewanie, normy i metody rozwoju. (The Poznan Child'90. Growth, Development, Reference standards), Wydawnictwo Naukowe Bogucki, Poznan, 1994.
-
-
-
-
11
-
-
34047274124
-
The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with mucopolysaccharidosis type I
-
Pastores G.M., Arn P., Beck M., Clarke J.T., Guffon N., Kaplan P., Muenzer J., Norato D.Y., Shapiro E., Thomas J., Viskochil D., and Wraith J.E. The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with mucopolysaccharidosis type I. Mol. Genet. Metab. 91 (2007) 37-47
-
(2007)
Mol. Genet. Metab.
, vol.91
, pp. 37-47
-
-
Pastores, G.M.1
Arn, P.2
Beck, M.3
Clarke, J.T.4
Guffon, N.5
Kaplan, P.6
Muenzer, J.7
Norato, D.Y.8
Shapiro, E.9
Thomas, J.10
Viskochil, D.11
Wraith, J.E.12
-
12
-
-
0041524060
-
Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature
-
Terlato N.J., and Cox G.F. Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature. Genet. Med. 5 (2003) 286-294
-
(2003)
Genet. Med.
, vol.5
, pp. 286-294
-
-
Terlato, N.J.1
Cox, G.F.2
-
13
-
-
0035905889
-
Enzyme replacement therapy in mucopolysaccharidosis I
-
Kakkis E.D., Muenzer J., Tiller G.E., Waber L., Belmont J., Passage M., Izykowski B., Philips J., Doroshow R., Walot I., Hoft R., and Neufeld E.F. Enzyme replacement therapy in mucopolysaccharidosis I. N. Engl. J. Med. 344 (2001) 182-188
-
(2001)
N. Engl. 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
-
14
-
-
33846198829
-
A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years
-
Sifuentes M., Doroshow R., Hoft R., Mason G., Walot I., Diament M., Okazaki S., Huff K., Cox G.F., Swiedler S.J., and Kakkis E.D. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol. Genet. Metab. 90 (2007) 171-180
-
(2007)
Mol. Genet. Metab.
, vol.90
, pp. 171-180
-
-
Sifuentes, M.1
Doroshow, R.2
Hoft, R.3
Mason, G.4
Walot, I.5
Diament, M.6
Okazaki, S.7
Huff, K.8
Cox, G.F.9
Swiedler, S.J.10
Kakkis, E.D.11
-
15
-
-
34447121276
-
Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-l-iduronidase (laronidase)
-
Wraith J.E., Beck M., Lane R., van der Ploeq A., Shapiro E., Xue Y., Kakkis E.D., and Guffon N. Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-l-iduronidase (laronidase). Pediatrics 120 (2007) e37-e46
-
(2007)
Pediatrics
, vol.120
-
-
Wraith, J.E.1
Beck, M.2
Lane, R.3
van der Ploeq, A.4
Shapiro, E.5
Xue, Y.6
Kakkis, E.D.7
Guffon, N.8
-
16
-
-
35448948601
-
Enzyme replacement therapy in 12 patients with MPS I-H/S with homozygous p.Leu490Pro mutation
-
Arora R.S., Mercer J., Thornley M., Tylee K., and Wraith J.E. Enzyme replacement therapy in 12 patients with MPS I-H/S with homozygous p.Leu490Pro mutation. J. Inherit. Metab. Dis. 30 (2007) 821
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 821
-
-
Arora, R.S.1
Mercer, J.2
Thornley, M.3
Tylee, K.4
Wraith, J.E.5
-
17
-
-
34547906935
-
Outcome after three years of laronidase enzyme treatment therapy in a patient with Hurler syndrome
-
Thomas J.A., Jacobs S., Kierstein J., and Van Hove J. Outcome after three years of laronidase enzyme treatment therapy in a patient with Hurler syndrome. J. Inherit. Metab. Dis. 29 (2006) 762
-
(2006)
J. Inherit. Metab. Dis.
, vol.29
, pp. 762
-
-
Thomas, J.A.1
Jacobs, S.2
Kierstein, J.3
Van Hove, J.4
-
18
-
-
34249011209
-
Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I
-
Tokic V., Barisic I., Huzjak N., Petkovic G., Fumic K., and Paschke E. Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I. Eur. J. Pediatr. 166 (2007) 727-732
-
(2007)
Eur. J. Pediatr.
, vol.166
, pp. 727-732
-
-
Tokic, V.1
Barisic, I.2
Huzjak, N.3
Petkovic, G.4
Fumic, K.5
Paschke, E.6
-
19
-
-
33846407580
-
Restricted upper extremity range of motion in mucopolysaccharidosis type I: no response to one year of enzyme replacement therapy
-
Cox-Brinkman J., Smeulders M.J., Hollak C.E., and Wijburg F.A. Restricted upper extremity range of motion in mucopolysaccharidosis type I: no response to one year of enzyme replacement therapy. J. Inherit. Metab. Dis. 30 (2007) 47-50
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 47-50
-
-
Cox-Brinkman, J.1
Smeulders, M.J.2
Hollak, C.E.3
Wijburg, F.A.4
-
20
-
-
59449100963
-
Mucopolysaccharidosis I: management and treatment guidelines
-
Muenzer J., Wraith J.E., and Clarke L.A. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics 123 (2009) 19-29
-
(2009)
Pediatrics
, vol.123
, pp. 19-29
-
-
Muenzer, J.1
Wraith, J.E.2
Clarke, L.A.3
-
21
-
-
0031018301
-
Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres
-
Vellodi A., Young E.P., Cooper A., Wraith J.E., Winchester B., Meaney C., Ramaswami U., and Will A. Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres. Arch. Dis. Child. 76 (1997) 92-99
-
(1997)
Arch. Dis. Child.
, vol.76
, pp. 92-99
-
-
Vellodi, A.1
Young, E.P.2
Cooper, A.3
Wraith, J.E.4
Winchester, B.5
Meaney, C.6
Ramaswami, U.7
Will, A.8
-
22
-
-
47849115960
-
Growth and endocrine function in patients with Hurler syndrome after hematopoietic stem cell transplantation
-
Polgreen L.E., Tolar J., Plog M., Himes J.H., Orchard P.J., Whitley C.B., Miller B.S., and Petryk A. Growth and endocrine function in patients with Hurler syndrome after hematopoietic stem cell transplantation. Bone Marrow Transplant. 41 (2008) 1005-1011
-
(2008)
Bone Marrow Transplant.
, vol.41
, pp. 1005-1011
-
-
Polgreen, L.E.1
Tolar, J.2
Plog, M.3
Himes, J.H.4
Orchard, P.J.5
Whitley, C.B.6
Miller, B.S.7
Petryk, A.8
-
23
-
-
17744378748
-
Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models
-
Simonaro C.M., D'Angelo M., Haskins M.E., and Schuchman E.H. Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models. Pediatr. Res. 57 (2005) 701-707
-
(2005)
Pediatr. Res.
, vol.57
, pp. 701-707
-
-
Simonaro, C.M.1
D'Angelo, M.2
Haskins, M.E.3
Schuchman, E.H.4
-
24
-
-
0027285264
-
Characterization of osteopenia in feline mucopolysaccharidosis VI and evaluation of bone marrow transplantation therapy
-
Norrdin R.W., Moffat K.S., Thrall M.A., and Grasper P.W. Characterization of osteopenia in feline mucopolysaccharidosis VI and evaluation of bone marrow transplantation therapy. Bone 14 (1993) 361-367
-
(1993)
Bone
, vol.14
, pp. 361-367
-
-
Norrdin, R.W.1
Moffat, K.S.2
Thrall, M.A.3
Grasper, P.W.4
-
25
-
-
0029021338
-
Growth plate pathology in feline mucopolysaccharidosis VI
-
Abreu S., Hayden J., Berthold P., Shapiro I.M., Decker S., Patterson D., and Haskins M. Growth plate pathology in feline mucopolysaccharidosis VI. Calcif. Tissues Int. 57 (1995) 185-190
-
(1995)
Calcif. Tissues Int.
, vol.57
, pp. 185-190
-
-
Abreu, S.1
Hayden, J.2
Berthold, P.3
Shapiro, I.M.4
Decker, S.5
Patterson, D.6
Haskins, M.7
-
26
-
-
36348943468
-
Enzyme reconstitution/replacement therapy for lysosomal storage diseases
-
Burrow T.A., Hopkin R.J., Leslie N.D., Tinkle B.T., and Grabowski G.A. Enzyme reconstitution/replacement therapy for lysosomal storage diseases. Curr. Opin. Pediatr. 19 (2007) 628-635
-
(2007)
Curr. Opin. Pediatr.
, vol.19
, pp. 628-635
-
-
Burrow, T.A.1
Hopkin, R.J.2
Leslie, N.D.3
Tinkle, B.T.4
Grabowski, G.A.5
|