-
1
-
-
84893672647
-
Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the alpha-L-iduronidase gene in Hurler-Scheie syndrome
-
Ahmed A, Whitley CB, Cooksley R et al (2014a) Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the alpha-L-iduronidase gene in Hurler-Scheie syndrome. Mol Genet Metab 111(2):123–127
-
(2014)
Mol Genet Metab
, vol.111
, Issue.2
, pp. 123-127
-
-
Ahmed, A.1
Whitley, C.B.2
Cooksley, R.3
-
2
-
-
84961864675
-
MPS (Mucopolysaccharidosis) specific physical symptom score – development, reliability and validity
-
Ahmed A, Kunin-Batson A, Redtree E, Whitley C, Shapiro E (2014b) MPS (mucopolysaccharidosis) specific physical symptom score – development, reliability and validity. Mol Genet Metab 111(2): S17–S18
-
(2014)
Mol Genet Metab
, vol.111
, Issue.2
, pp. S17-S18
-
-
Ahmed, A.1
Kunin-Batson, A.2
Redtree, E.3
Whitley, C.4
Shapiro, E.5
-
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
-
-
79957622828
-
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: Identification and characterization of 35 novel ∝-L-iduronidase (IDUA) alleles
-
Bertola F, Filocamo M, Casati G et al (2011) IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel ∝-L-iduronidase (IDUA) alleles. Hum Mutat 32(6): 189–210
-
(2011)
Hum Mutat
, vol.32
, Issue.6
, pp. 189-210
-
-
Bertola, F.1
Filocamo, M.2
Casati, G.3
-
5
-
-
84925952402
-
Mucopolysaccharidosis Type I, (Updated 2011 Jul 21)
-
Pagon RA, Adam MP, Bird TD et al (eds), Seattle. 1993–2013
-
Clarke LA, Heppner J (2002) Mucopolysaccharidosis Type I, (Updated 2011 Jul 21). In: Pagon RA, Adam MP, Bird TD et al (eds) Gene Reviews™ [Internet]. University of Washington, Seattle. 1993–2013. http://www.ncbi.nlm.nih.gov/books/NBK1162/
-
(2002)
Gene Reviews™ [Internet]. University of Washington
-
-
Clarke, L.A.1
Heppner, J.2
-
6
-
-
84907095419
-
R: A language and environment for statistical computing
-
Vienna
-
R Core Team (2014) R: a language and environment for statistical computing. R Foundation for Statistical Computing, Vienna. http://www.R-project.org/
-
(2014)
R Foundation for Statistical Computing
-
-
-
7
-
-
84863717886
-
Diagnosis and treatment trends in mucopolysaccharidosis I: Findings from the MPS I Registry
-
D’Aco K, Underhill L, Rangachari L et al (2012) Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. Eur J Pediatr 171:911–919
-
(2012)
Eur J Pediatr
, vol.171
, pp. 911-919
-
-
D’Aco, K.1
Underhill, L.2
Rangachari, L.3
-
9
-
-
33745263740
-
A physical performance measure for individuals with mucopolysaccharidosis type I
-
Haley SM, Fragala-Pinkham MA, Dumas HM, Ni P, Skrinar AM, Cox GF (2006) A physical performance measure for individuals with mucopolysaccharidosis type I. Dev Med Child Neurol 48: 576–581
-
(2006)
Dev Med Child Neurol
, vol.48
, pp. 576-581
-
-
Haley, S.M.1
Fragala-Pinkham, M.A.2
Dumas, H.M.3
Ni, P.4
Skrinar, A.M.5
Cox, G.F.6
-
10
-
-
0025666525
-
The mucopolysaccharidosis: Diagnosis, molecular genetics and treatment
-
Hopwood JJ, Morris CP (1990) The mucopolysaccharidosis: diagnosis, molecular genetics and treatment. Mol Biol Med 7(5): 381–404
-
(1990)
Mol Biol Med
, vol.7
, Issue.5
, pp. 381-404
-
-
Hopwood, J.J.1
Morris, C.P.2
-
11
-
-
0035905889
-
Enzyme-replacement therapy in mucopolysaccharidosis I
-
Kakkis ED, Muenzer J, Tiller GE et al (2001) Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 344:182–188
-
(2001)
N Engl J Med
, vol.344
, pp. 182-188
-
-
Kakkis, E.D.1
Muenzer, J.2
Tiller, G.E.3
-
12
-
-
85060314105
-
The CHQ user’s manual, 1st edn
-
New England Medical Center, Boston
-
Landgraf JM, Abetz L, Ware JE (1996) The CHQ user’s manual, 1st edn. The Health Institute, New England Medical Center, Boston
-
(1996)
The Health Institute
-
-
Landgraf, J.M.1
Abetz, L.2
Ware, J.E.3
-
14
-
-
52949116848
-
The prevalence of and survival in mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK
-
Moore D, Connock MJ, Wraith JE, Lavery C (2008) The prevalence of and survival in mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK. Orphanet J Rare Dis 3: 24
-
(2008)
Orphanet J Rare Dis
, vol.3
, pp. 24
-
-
Moore, D.1
Connock, M.J.2
Wraith, J.E.3
Lavery, C.4
-
15
-
-
59449100963
-
Mucopolysaccharidosis I: Management and treatment guidelines
-
Muenzer J, Wraith JE, Clarke LA (2009) Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics 123:19–29
-
(2009)
Pediatrics
, vol.123
, pp. 19-29
-
-
Muenzer, J.1
Wraith, J.E.2
Clarke, L.A.3
-
16
-
-
0003720078
-
-
The mucopolysaccharidoses. In: Scriver C, Beaudet A, Sly W, Valle D, Childs R, Kinzler K, McGraw-Hill, New York
-
Neufeld EF, Muenzer J (2001) The mucopolysaccharidoses. In: Scriver C, Beaudet A, Sly W, Valle D, Childs R, Kinzler K (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
-
17
-
-
34047274124
-
The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I
-
Pastores GM, Arn P, Beck M et al (2007) The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I. Mol Genet Metab 91:37–47
-
(2007)
Mol Genet Metab
, vol.91
, pp. 37-47
-
-
Pastores, G.M.1
Arn, P.2
Beck, M.3
-
18
-
-
9344245169
-
Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome
-
Peters C, Balthazor M, Shapiro E 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.3
-
19
-
-
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 E, 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.2
Anderson, J.3
-
20
-
-
0028841213
-
Molecular genetics of mucopolysaccharidosis type I: Diagnostic, clinical, and biological implications
-
Scott HS, Bunge S, Gal A, Clarke LA, Morris CP, Hopwood JJ (1995) Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. Hum Mutat 6:288–302
-
(1995)
Hum Mutat
, vol.6
, pp. 288-302
-
-
Scott, H.S.1
Bunge, S.2
Gal, A.3
Clarke, L.A.4
Morris, C.P.5
Hopwood, J.J.6
-
21
-
-
10744223978
-
Outcome of 27 patients with Hurler’s syndrome transplanted from either related or unrelated haematopoietic stem cell sources
-
Souillet G, GuVon N, Maire I 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
Guvon, N.2
Maire, I.3
-
23
-
-
2342535103
-
Cord-blood transplants from unrelated donors in patients with Hurler’s syndrome
-
Staba SL, Escolar ML, Poe M 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
-
24
-
-
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
-
25
-
-
2342666229
-
Enzyme replacement therapy for mucopolysaccharidosis I: A randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase)
-
Wraith JE, Clarke LA, Beck M et al (2004) Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-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
-
26
-
-
84921766436
-
Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II
-
Yund B, Rudser K, Ahmed A et al (2015) Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II. Mol Genet Metab 114(2):170–177
-
(2015)
Mol Genet Metab
, vol.114
, Issue.2
, pp. 170-177
-
-
Yund, B.1
Rudser, K.2
Ahmed, A.3
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