-
2
-
-
34248668484
-
Outcomes of unrelated umbilical cord blood transplantation for X-linked adrenoleuko-dystrophy
-
Beam D, Poe MD, Provenzale JM et al (2007) Outcomes of unrelated umbilical cord blood transplantation for X-linked adrenoleuko-dystrophy. Biol Blood Marrow Transplant 13:665–674
-
(2007)
Biol Blood Marrow Transplant
, vol.13
, pp. 665-674
-
-
Beam, D.1
Poe, M.D.2
Provenzale, J.M.3
-
3
-
-
0035182013
-
Mutational analysis of 85 mucopolysaccharidosis type I families: Frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations
-
Beesley CE, Meaney CA, Greenland G et al (2001) Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. Hum Genet 109:503–511
-
(2001)
Hum Genet
, vol.109
, pp. 503-511
-
-
Beesley, C.E.1
Meaney, C.A.2
Greenland, G.3
-
4
-
-
82955163032
-
Cardiac disease in patients with mucopolysaccharidosis: Presentation, diagnosis and management
-
Braunlin EA, Harmatz PR, Scarpa M et al (2010) Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis 34:1183–1197
-
(2010)
J Inherit Metab Dis
, vol.34
, pp. 1183-1197
-
-
Braunlin, E.A.1
Harmatz, P.R.2
Scarpa, M.3
-
5
-
-
48749103550
-
Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis I
-
Dickson P, Peinovich M, McEntee M et al (2008) Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis I. J Clin Invest 118:2868–2876
-
(2008)
J Clin Invest
, vol.118
, pp. 2868-2876
-
-
Dickson, P.1
Peinovich, M.2
McEntee, M.3
-
6
-
-
20844453744
-
Transplantation of umbilical-cord blood in babies with infantile Krabbe’s disease
-
Escolar ML, Poe MD, Provenzale JM et al (2005) Transplantation of umbilical-cord blood in babies with infantile Krabbe’s disease. N Engl J Med 352:2069–2081
-
(2005)
N Engl J Med
, vol.352
, pp. 2069-2081
-
-
Escolar, M.L.1
Poe, M.D.2
Provenzale, J.M.3
-
7
-
-
0031926575
-
Follow-up of nine patients with Hurler syndrome after bone marrow transplantation
-
Guffon N, Souillet G, Maire I, Straczek J, Guibaud P (1998) Follow-up of nine patients with Hurler syndrome after bone marrow transplantation. J Pediatr 133:119–125
-
(1998)
J Pediatr
, vol.133
, pp. 119-125
-
-
Guffon, N.1
Souillet, G.2
Maire, I.3
Straczek, J.4
Guibaud, P.5
-
8
-
-
0019466750
-
Reversal of clinical features of Hurler’s disease and biochemical improvement after treatment by bone-marrow transplantation
-
Hobbs JR, Hugh-Jones K, Barrett AJ et al (1981) Reversal of clinical features of Hurler’s disease and biochemical improvement after treatment by bone-marrow transplantation. Lancet 2:709–712
-
(1981)
Lancet
, vol.2
, pp. 709-712
-
-
Hobbs, J.R.1
Hugh-Jones, K.2
Barrett, A.J.3
-
9
-
-
33644930349
-
Inflammatory cytokines and the development of pulmonary complications after allogeneic hematopoietic cell transplantation in patients with inherited metabolic storage disorders
-
Kharbanda S, Panoskaltsis-Mortari A, Haddad IY (2006) Inflammatory cytokines and the development of pulmonary complications after allogeneic hematopoietic cell transplantation in patients with inherited metabolic storage disorders. Biol Blood Marrow Transplant 12:430–437
-
(2006)
Biol Blood Marrow Transplant
, vol.12
, pp. 430-437
-
-
Kharbanda, S.1
Panoskaltsis-Mortari, A.2
Haddad, I.Y.3
-
10
-
-
63849138912
-
Outcome in six children with mucopolysaccharidosis type IH, Hurler syndrome, after haematopoietic stem cell transplantation (HSCT)
-
Malm G, Gustafsson B, Berglund G et al (2008) Outcome in six children with mucopolysaccharidosis type IH, Hurler syndrome, after haematopoietic stem cell transplantation (HSCT). Acta Paediatr 97:1108–1112
-
(2008)
Acta Paediatr
, vol.97
, pp. 1108-1112
-
-
Malm, G.1
Gustafsson, B.2
Berglund, G.3
-
11
-
-
31344470473
-
Results of the cord blood transplantation study (COBLT): Outcomes of unrelated donor umbilical cord blood transplantation in pediatric patients with lysosomal and peroxisomal storage diseases
-
Martin PL, Carter SL, Kernan NA et al (2006) Results of the cord blood transplantation study (COBLT): outcomes of unrelated donor umbilical cord blood transplantation in pediatric patients with lysosomal and peroxisomal storage diseases. Biol Blood Marrow Transplant 12:184–194
-
(2006)
Biol Blood Marrow Transplant
, vol.12
, pp. 184-194
-
-
Martin, P.L.1
Carter, S.L.2
Kernan, N.A.3
-
12
-
-
59449100963
-
International consensus panel on management and treatment of mucopolysaccharidosis I
-
Muenzer J, Wraith JE, Clarke LA (2009) International consensus panel on management and treatment of mucopolysaccharidosis I. Pediatrics 123:19–29
-
(2009)
Pediatrics
, vol.123
, pp. 19-29
-
-
Muenzer, J.1
Wraith, J.E.2
Clarke, L.A.3
-
13
-
-
0003720078
-
-
The mucopolysaccharidosis. In: Scriver C, Beaudet A, Sly W, Valle D, McGraw-Hill, New York
-
Neufeld EF, Muenzer J (2001) The mucopolysaccharidosis. In: Scriver C, Beaudet A, Sly W, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 3421–3452
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3421-3452
-
-
Neufeld, E.F.1
Muenzer, J.2
-
14
-
-
77955013121
-
Pre-transplant risk factors affecting outcome in Hurler syndrome
-
Orchard PJ, Milla C, Braunlin E, DeFor T, Bjoraker K, Blazar BR (2010) Pre-transplant risk factors affecting outcome in Hurler syndrome. Bone Marrow Transplant 45:1239–1246
-
(2010)
Bone Marrow Transplant
, vol.45
, pp. 1239-1246
-
-
Orchard, P.J.1
Milla, C.2
Braunlin, E.3
Defor, T.4
Bjoraker, K.5
Blazar, B.R.6
-
15
-
-
9344245169
-
Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome
-
Peters C, Balthazor M, Shapiro EG et al (1996) Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood 87:4894–4902
-
(1996)
Blood
, vol.87
, pp. 4894-4902
-
-
Peters, C.1
Balthazor, M.2
Shapiro, E.G.3
-
16
-
-
0032055564
-
Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The storage disease collaborative study group
-
Peters C, Shapiro EG, Anderson J et al (1998) Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The storage disease collaborative study group. Blood 91:2601–2608
-
(1998)
Blood
, vol.91
, pp. 2601-2608
-
-
Peters, C.1
Shapiro, E.G.2
Anderson, J.3
-
17
-
-
84912535118
-
Early treatment is associated with improved cognition in Hurler syndrome
-
Poe MD, Chagnon SL, Escolar M (2014) Early treatment is associated with improved cognition in Hurler syndrome. Ann Neurol 76 (5):747–753. doi:10.1002/ana.24246
-
(2014)
Ann Neurol
, vol.76
, Issue.5
, pp. 747-753
-
-
Poe, M.D.1
Chagnon, S.L.2
Escolar, M.3
-
18
-
-
53449089638
-
Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: Influence of cellular composition of the graft on transplantation outcomes
-
Prasad VK, Mendizabal A, Parikh SH et al (2008) Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: influence of cellular composition of the graft on transplantation outcomes. Blood 112:2979–2989
-
(2008)
Blood
, vol.112
, pp. 2979-2989
-
-
Prasad, V.K.1
Mendizabal, A.2
Parikh, S.H.3
-
19
-
-
0029146242
-
Neuropsy-chological outcomes of several storage diseases with and without bone marrow transplantation
-
Shapiro EG, Lockman LA, Balthazor M, Krivit W (1995) Neuropsy-chological outcomes of several storage diseases with and without bone marrow transplantation. J Inherit Metab Dis 18:413–429
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 413-429
-
-
Shapiro, E.G.1
Lockman, L.A.2
Balthazor, M.3
Krivit, W.4
-
20
-
-
10744223978
-
Outcome of 27 patients with Hurler’s syndrome transplanted from either related or unrelated haematopoietic stem cell sources
-
Souillet G, Guffon N, Maire I, Pujol M et al (2003) Outcome of 27 patients with Hurler’s syndrome transplanted from either related or unrelated haematopoietic stem cell sources. Bone Marrow Transplant 31:1105–1117
-
(2003)
Bone Marrow Transplant
, vol.31
, pp. 1105-1117
-
-
Souillet, G.1
Guffon, N.2
Maire, I.3
Pujol, M.4
-
21
-
-
2342535103
-
Cord-blood transplants from unrelated donors in patients with Hurler’s syndrome
-
Staba SL, Escolar ML, Poe M, Kim Y et al (2004) Cord-blood transplants from unrelated donors in patients with Hurler’s syndrome. N Engl J Med 350:1960–1969
-
(2004)
N Engl J Med
, vol.350
, pp. 1960-1969
-
-
Staba, S.L.1
Escolar, M.L.2
Poe, M.3
Kim, Y.4
-
22
-
-
0041524060
-
Can mucopolysaccharidosis type I disease severity be predicted based on a patient’s genotype? A comprehensive review of the literature
-
Terlato NJ, Cox GF (2003) Can mucopolysaccharidosis type I disease severity be predicted based on a patient’s genotype? A comprehensive review of the literature. Genet Med 5:286–294
-
(2003)
Genet Med
, vol.5
, pp. 286-294
-
-
Terlato, N.J.1
Cox, G.F.2
-
23
-
-
34547906935
-
Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome
-
Thomas JA, Jacobs S, Kierstein J, Van HJ (2006) Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome. J Inherit Metab Dis 29:762
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 762
-
-
Thomas, J.A.1
Jacobs, S.2
Kierstein, J.3
Van, H.J.4
-
24
-
-
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, Paschke E (2007) Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I. Eur J Pediatr 166:727–732
-
(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
-
25
-
-
84912561973
-
Intravenous and intrathecal enzyme replacement before and after hematopoietic cell transplantation for Hurler syndrome
-
Tolar J, Dickson P, Orchard PJ (2009) Intravenous and intrathecal enzyme replacement before and after hematopoietic cell transplantation for Hurler syndrome. Biol Blood Marrow Transplant 15(Suppl 2):74
-
(2009)
Biol Blood Marrow Transplant
, vol.15
, pp. 74
-
-
Tolar, J.1
Dickson, P.2
Orchard, P.J.3
-
26
-
-
0031018301
-
Bone marrow transplantation for mucopolysaccharidosis type I: Experience of two British centres
-
Vellodi A, Young EP, Cooper A et al (1997) Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres. Arch Dis Child 76:92–99
-
(1997)
Arch Dis Child
, vol.76
, pp. 92-99
-
-
Vellodi, A.1
Young, E.P.2
Cooper, A.3
-
27
-
-
78449311112
-
Gene therapy augments the efficacy of hematopoietic cell transplantation and fully corrects mucopolysaccharidosis type I phenotype in the mouse model
-
Visigalli I, Delai S, Politi LS et al (2010) Gene therapy augments the efficacy of hematopoietic cell transplantation and fully corrects mucopolysaccharidosis type I phenotype in the mouse model. Blood 9(116):5130–5139
-
(2010)
Blood
, vol.9
, Issue.116
, pp. 5130-5139
-
-
Visigalli, I.1
Delai, S.2
Politi, L.S.3
-
28
-
-
0347419495
-
Musculoskeletal manifestations of Hurler syndrome long-term follow-Up after bone marrow transplantation
-
Weisstein JS, Delgado E, Steinbach LS, Hart K, Packman S (2004) Musculoskeletal manifestations of Hurler syndrome long-term follow-Up after bone marrow transplantation. J Pediatr Orthop 24:97–101
-
(2004)
J Pediatr Orthop
, vol.24
, pp. 97-101
-
-
Weisstein, J.S.1
Delgado, E.2
Steinbach, L.S.3
Hart, K.4
Packman, S.5
-
29
-
-
0027466761
-
Long-term outcome of Hurler syndrome following bone marrow transplantation
-
Whitley CB, Belani KG, Chang PN et al (1993) Long-term outcome of Hurler syndrome following bone marrow transplantation. Am J Med Genet 46:209–218
-
(1993)
Am J Med Genet
, vol.46
, pp. 209-218
-
-
Whitley, C.B.1
Belani, K.G.2
Chang, P.N.3
-
30
-
-
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 JE, Beck M, Lane R et al (2007) 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: e37–e46
-
(2007)
Pediatrics
, vol.120
, pp. e37-e46
-
-
Wraith, J.E.1
Beck, M.2
Lane, R.3
|