-
1
-
-
70449719317
-
Musculoskeletal manifestations of lysosomal storage disorders
-
Aldenhoven M, Sakkers RJ, Boelens J, de Koning TJ, Wulffraat NM (2009) Musculoskeletal manifestations of lysosomal storage disorders. Ann Rheum Dis 68:1659-1665
-
(2009)
Ann Rheum Dis
, vol.68
, pp. 1659-1665
-
-
Aldenhoven, M.1
Sakkers, R.J.2
Boelens, J.3
De Koning, T.J.4
Wulffraat, N.M.5
-
2
-
-
25144481848
-
Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)
-
DOI 10.1007/s10545-005-0093-y
-
Beesley CE, Jackson M, Young EP, Vellodi A, Winchester BG (2005) Molecular defects in Sanf i l ippo syndrome type B (mucopolysaccharidosis IIIB). J Inherit Metab Dis 28:759-767 (Pubitemid 41349263)
-
(2005)
Journal of Inherited Metabolic Disease
, vol.28
, Issue.5
, pp. 759-767
-
-
Beesley, C.E.1
Jackson, M.2
Young, E.P.3
Vellodi, A.4
Winchester, B.G.5
-
3
-
-
16944363330
-
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)
-
DOI 10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUM
-
Bunge S, Ince H, Steglich C et al (1997) Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A). Hum Mutat 10:479-485 (Pubitemid 27523061)
-
(1997)
Human Mutation
, vol.10
, Issue.6
, pp. 479-485
-
-
Bunge, S.1
Ince, H.2
Steglich, C.3
Kleijer, W.J.4
Beck, M.5
Zaremba, J.6
Van Diggelen, O.P.7
Weber, B.8
Hopwood, J.J.9
Gal, A.10
-
4
-
-
0024331187
-
Somatomedin-binding proteins: What role do they play in the growth process?
-
DOI 10.1007/BF01995850
-
Cianfarani S, Holly JM (1989) Somatomedin-binding proteins: what role do they play in the growth process? Eur J Pediatr 149:76-79 (Pubitemid 20000985)
-
(1989)
European Journal of Pediatrics
, vol.149
, Issue.2
, pp. 76-79
-
-
Cianfarani, S.1
Holly, J.M.P.2
-
5
-
-
84855591153
-
Pathogenesis of skeletal and connective tissue involvement in the mucopolysaccharidoses: Glycosaminoglycan storage ismerely the instigator
-
Clarke LA (2011) Pathogenesis of skeletal and connective tissue involvement in the mucopolysaccharidoses: Glycosaminoglycan storage ismerely the instigator. Rheumatology (Oxford) 50(5):v13-v18
-
(2011)
Rheumatology (Oxford)
, vol.50
, Issue.5
-
-
Clarke, L.A.1
-
7
-
-
0026682977
-
Smoothing reference centile curves: The LMS method and penalized likelihood
-
Cole TJ, Green PJ (1992) Smoothing reference centile curves: The LMS method and penalized likelihood. Stat Med 11:1305-1319
-
(1992)
Stat Med
, vol.11
, pp. 1305-1319
-
-
Cole, T.J.1
Green, P.J.2
-
8
-
-
16244421160
-
Primaire en secundaire preventie van congenitale heupluxatie
-
de Jonge GA (1986) Primaire en secundaire preventie van congenitale heupluxatie. Ned Tijdschr Geneeskd 17:12-13
-
(1986)
Ned Tijdschr Geneeskd
, vol.17
, pp. 12-13
-
-
De Jonge, G.A.1
-
10
-
-
84876076159
-
High prevalence of femoral head necrosis inMucopolysaccharidosis type III (Sanfilippo disease): A national, observational, cross-sectional study
-
de Ruijter J, Maas M, Janssen A, Wijburg FA (2013) High prevalence of femoral head necrosis inMucopolysaccharidosis type III (Sanfilippo disease): A national, observational, cross-sectional study. Mol Genet Metab 109:49-53
-
(2013)
Mol Genet Metab
, vol.109
, pp. 49-53
-
-
De Ruijter, J.1
Maas, M.2
Janssen, A.3
Wijburg, F.A.4
-
11
-
-
0031956682
-
Identification of molecular defects in Italian Sanfilippo a patients including 13 novel mutations
-
DOI 10.1002/(SICI)1098-1004(1998)11:4<313::AID-HUM
-
Di Natale P, Balzano N, Esposito S, Villani GR (1998) Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations. Hum Mutat 11:313-320 (Pubitemid 28177873)
-
(1998)
Human Mutation
, vol.11
, Issue.4
, pp. 313-320
-
-
Di, N.P.1
Balzano, N.2
Esposito, S.3
Villani, G.R.D.4
-
12
-
-
0033995629
-
Continuing positive secular growth change in the Netherlands 1955-1997
-
Fredriks AM, van Buuren S, Burgmeijer RJ (2000) Continuing positive secular growth change in The Netherlands 1955-1997. Pediatr Res 47:316-323 (Pubitemid 30127036)
-
(2000)
Pediatric Research
, vol.47
, Issue.3
, pp. 316-323
-
-
Fredriks, A.M.1
Van Buuren, S.2
Burgmeijer, R.J.F.3
Meulmeester, J.F.4
Beuker, R.J.5
Brugman, E.6
Roede, M.J.7
Verloove-Vanhorick, S.P.8
Wit, J.-M.9
-
13
-
-
34548380937
-
Proteoglycanomics: Tools to unravel the biological function of glycosaminoglycans
-
DOI 10.1002/pmic.200700176
-
Gesslbauer B, Rek A, Falsone F, Rajkovic E, Kungl AJ (2007) Proteoglycanomics: tools to unravel the biological function of glycosaminoglycans. Proteomics 7:2870-2880 (Pubitemid 47359927)
-
(2007)
Proteomics
, vol.7
, Issue.16
, pp. 2870-2880
-
-
Gesslbauer, B.1
Rek, A.2
Falsone, F.3
Rajkovic, E.4
Kungl, A.J.5
-
14
-
-
84872445656
-
Mucopolysacccharidoses: From understanding to treatment, a century of discoveries
-
Giugliani R (2012) Mucopolysacccharidoses: From understanding to treatment, a century of discoveries. Genet Mol Biol 35:924-931
-
(2012)
Genet Mol Biol
, vol.35
, pp. 924-931
-
-
Giugliani, R.1
-
15
-
-
84876075883
-
The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)
-
Jones SA, Parini R, Harmatz P, Giugliani R, Fang J, Mendelsohn NJ (2013) The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS). Mol Genet Metab 109:41-48
-
(2013)
Mol Genet Metab
, vol.109
, pp. 41-48
-
-
Jones, S.A.1
Parini, R.2
Harmatz, P.3
Giugliani, R.4
Fang, J.5
Mendelsohn, N.J.6
-
16
-
-
73749086286
-
Clinical overview of children with mucopolysaccharidosis type III A and effect of Risperidone treatment on children and their mothers psychological status
-
Kalkan US, Ozbaran B, Demiral N, Yuncu Z, Erermis S, CokerM(2010) Clinical overview of children with mucopolysaccharidosis type III A and effect of Risperidone treatment on children and their mothers psychological status. Brain Dev 32:156-161
-
(2010)
Brain Dev
, vol.32
, pp. 156-161
-
-
Kalkan, U.S.1
Ozbaran, B.2
Demiral, N.3
Yuncu, Z.4
Erermis, S.5
Coker, M.6
-
17
-
-
0014591676
-
Intrauterine growth and intrauterine growth curves
-
Kloosterman GJ (1969) Intrauterine growth and intrauterine growth curves. Ned Tijdschr Verloskd Gynaecol 69:349-365
-
(1969)
Ned Tijdschr Verloskd Gynaecol
, vol.69
, pp. 349-365
-
-
Kloosterman, G.J.1
-
18
-
-
79951825745
-
Prevalence and risk factors of overweight and obesity among children and adolescents with intellectual disabilities
-
Maiano C (2011) Prevalence and risk factors of overweight and obesity among children and adolescents with intellectual disabilities. Obes Rev 12:189-197
-
(2011)
Obes Rev
, vol.12
, pp. 189-197
-
-
Maiano, C.1
-
19
-
-
43049096056
-
Growth charts for patients affected with Morquio A disease
-
DOI 10.1002/ajmg.a.32281
-
Montano AM, Tomatsu S, Brusius A, Smith M, Orii T (2008) Growth charts for patients affected with Morquio A disease. Am J Med Genet A 146A:1286-1295 (Pubitemid 351631325)
-
(2008)
American Journal of Medical Genetics, Part A
, vol.146
, Issue.10
, pp. 1286-1295
-
-
Montano, A.M.1
Tomatsu, S.2
Brusius, A.3
Smith, M.4
Orii, T.5
-
20
-
-
84855578618
-
Musculoskeletal manifestations of mucopolysaccharidoses
-
Morishita K, Petty RE (2011) Musculoskeletal manifestations of mucopolysaccharidoses. Rheumatology (Oxford) 50(5):v19-v25
-
(2011)
Rheumatology (Oxford)
, vol.50
, Issue.5
-
-
Morishita, K.1
Petty, R.E.2
-
21
-
-
79959503578
-
Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome
-
Muschol N, Pohl S, Meyer A, Gal A, Ullrich K, Braulke T (2011) Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome. Am J Med Genet A 155A:1634-1639
-
(2011)
Am J Med Genet A
, vol.155 A
, pp. 1634-1639
-
-
Muschol, N.1
Pohl, S.2
Meyer, A.3
Gal, A.4
Ullrich, K.5
Braulke, T.6
-
22
-
-
2642547512
-
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A
-
DOI 10.1002/humu.20037
-
Muschol N, Storch S, Ballhausen D et al (2004) Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A. Hum Mutat 23:559-566 (Pubitemid 38720607)
-
(2004)
Human Mutation
, vol.23
, Issue.6
, pp. 559-566
-
-
Muschol, N.1
Storch, S.2
Ballhausen, D.3
Beesley, C.4
Westermann, J.-C.5
Gal, A.6
Ullrich, K.7
Hopwood, J.J.8
Winchester, B.9
Braulke, T.10
-
23
-
-
42149088928
-
Continuous growth reference from 24th week of gestation to 24months by gender
-
Niklasson A, Albertsson-Wikland K (2008) Continuous growth reference from 24th week of gestation to 24months by gender. BMC Pediatr 8:8
-
(2008)
BMC Pediatr
, vol.8
, pp. 8
-
-
Niklasson, A.1
Albertsson-Wikland, K.2
-
24
-
-
77953415192
-
Growth patterns and the use of growth hormone in the mucopolysaccharidoses
-
Polgreen LE, Miller BS (2010) Growth patterns and the use of growth hormone in the mucopolysaccharidoses. J Pediatr Rehabil Med 3:25-38
-
(2010)
J Pediatr Rehabil Med
, vol.3
, pp. 25-38
-
-
Polgreen, L.E.1
Miller, B.S.2
-
25
-
-
47849115960
-
Growth and endocrine function in patients with Hurler syndrome after hematopoietic stem cell transplantation
-
DOI 10.1038/bmt.2008.20, PII BMT200820
-
Polgreen LE, Tolar J, PlogMet al (2008) Growth and endocrine function in patients with Hurler syndrome after hematopoietic stem cell transplantation. Bone Marrow Transplant 41:1005-1011 (Pubitemid 352034175)
-
(2008)
Bone Marrow Transplantation
, vol.41
, Issue.12
, 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
-
26
-
-
0032780351
-
The frequency of lysosomal storage diseases in The Netherlands
-
DOI 10.1007/s004399900075
-
Poorthuis BJ, Wevers RA, Kleijer WJ et al (1999) The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 105:151-156 (Pubitemid 29396979)
-
(1999)
Human Genetics
, vol.105
, Issue.1-2
, pp. 151-156
-
-
Poorthuis, B.J.H.M.1
Wevers, R.A.2
Kleijer, W.J.3
Groener, J.E.M.4
De Jong, J.G.N.5
Van Weely, S.6
Niezen-Koning, K.E.7
Van Diggelen, O.P.8
-
27
-
-
0025662071
-
The secular trend in The Netherlands. The third nationwide growth study
-
RoedeMJ (1990) The secular trend in The Netherlands. The third nationwide growth study. Arztl Jugendkd 81:330-336
-
(1990)
Arztl Jugendkd
, vol.81
, pp. 330-336
-
-
Roede, M.J.1
-
28
-
-
79551601711
-
Growth pattern and growth prediction of body height in children with mucopolysaccharidosis type II
-
Rozdzynska A, Tylki-Szymanska A, Jurecka A, Cieslik J (2011) Growth pattern and growth prediction of body height in children with mucopolysaccharidosis type II. Acta Paediatr 100:456-460
-
(2011)
Acta Paediatr
, vol.100
, pp. 456-460
-
-
Rozdzynska, A.1
Tylki-Szymanska, A.2
Jurecka, A.3
Cieslik, J.4
-
29
-
-
38049115253
-
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands
-
Ruijter GJ, ValstarMJ, van de Kamp JM et al (2008) Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol Genet Metab 93:104-111
-
(2008)
Mol Genet Metab
, vol.93
, pp. 104-111
-
-
Ruijter, G.J.1
Valstar, M.J.2
Van De Kamp, J.M.3
-
30
-
-
33748164423
-
Glycomics approach to structure-function relationships of glycosaminoglycans
-
DOI 10.1146/annurev.bioeng.8.061505.095745
-
Sasisekharan R, Raman R, Prabhakar V (2006) Glycomics approach to structure-function relationships of glycosaminoglycans. Annu Rev Biomed Eng 8:181-231 (Pubitemid 44314816)
-
(2006)
Annual Review of Biomedical Engineering
, vol.8
, pp. 181-231
-
-
Sasisekharan, R.1
Raman, R.2
Prabhakar, V.3
-
31
-
-
81055144889
-
Increase in prevalence of overweight in Dutch children and adolescents: A comparison of nationwide growth studies in 1980, 1997 and 2009
-
Schonbeck Y, Talma H, van Dommelen P et al (2011) Increase in prevalence of overweight in Dutch children and adolescents: a comparison of nationwide growth studies in 1980, 1997 and 2009. PLoS One 6:e27608
-
(2011)
PLoS One
, vol.6
-
-
Schonbeck, Y.1
Talma, H.2
Van Dommelen, P.3
-
32
-
-
84874028423
-
The world's tallest nation has stopped growing taller: The height of Dutch children 1955-2009
-
Schonbeck Y, Talma H, van Dommelen P (2012) The world's tallest nation has stopped growing taller: the height of Dutch children 1955-2009. Pediatr Res 73:371-377
-
(2012)
Pediatr Res
, vol.73
, pp. 371-377
-
-
Schonbeck, Y.1
Talma, H.2
Van Dommelen, P.3
-
33
-
-
38749093729
-
Mechanism of glycosaminoglycan-mediated bone and joint disease: Implications for the mucopolysaccharidoses and other connective tissue diseases
-
Simonaro CM, D'Angelo M, He X et al (2008) Mechanism of glycosaminoglycan-mediated bone and joint disease: Implications for the mucopolysaccharidoses and other connective tissue diseases. Am J Pathol 172:112-122
-
(2008)
Am J Pathol
, vol.172
, pp. 112-122
-
-
Simonaro, C.M.1
D'Angelo, M.2
He, X.3
-
34
-
-
20144386995
-
Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
-
DOI 10.1002/ajmg.a.30579
-
Swiedler SJ, Beck M, Bajbouj M et al (2005) Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Am J Med Genet A 134A:144-150 (Pubitemid 40446209)
-
(2005)
American Journal of Medical Genetics
, vol.134 A
, Issue.2
, pp. 144-150
-
-
Swiedler, S.J.1
Beck, M.2
Bajbouj, M.3
Giugliani, R.4
Schwartz, I.5
Harmatz, P.6
Wraith, J.E.7
Roberts, J.8
Ketteridge, D.9
Hopwood, J.J.10
Guffon, N.11
Sa, M.M.C.12
Teles, E.L.13
Berger, K.I.14
Piscia-Nichols, C.15
-
35
-
-
0034535074
-
Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients
-
DOI 10.1007/s004390000429
-
Tessitore A, Villani GR, Di DC, Filocamo M, Gatti R, Di Natale P (2000) Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients. Hum Genet 107:568-576 (Pubitemid 32010958)
-
(2000)
Human Genetics
, vol.107
, Issue.6
, pp. 568-576
-
-
Tessitore, A.1
Villani, G.R.D.2
Di, D.C.3
Filocamo, M.4
Gatti, R.5
Di, N.P.6
-
36
-
-
71649093573
-
Anthropometric data of 14 patients with mucopolysaccharidosis I: Retrospective analysis and efficacy of recombinant human alpha-L-iduronidase (laronidase)
-
Tylki-Szymanska A, Rozdzynska A, Jurecka A, Marucha J, Czartoryska B (2010) Anthropometric data of 14 patients with mucopolysaccharidosis I: Retrospective analysis and efficacy of recombinant human alpha-L-iduronidase (laronidase). Mol Genet Metab 99:10-17
-
(2010)
Mol Genet Metab
, vol.99
, pp. 10-17
-
-
Tylki-Szymanska, A.1
Rozdzynska, A.2
Jurecka, A.3
Marucha, J.4
Czartoryska, B.5
-
37
-
-
79952557240
-
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype
-
Valstar MJ, Bruggenwirth HT, Olmer R et al (2010a) Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. J Inherit Metab Dis 33:759-767
-
(2010)
J Inherit Metab Dis
, vol.33
, pp. 759-767
-
-
Valstar, M.J.1
Bruggenwirth, H.T.2
Olmer, R.3
-
38
-
-
78650905961
-
Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype-phenotype correlations
-
Valstar MJ, Neijs S, Bruggenwirth HT et al (2010b) Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype-phenotype correlations. Ann Neurol 68:876-887
-
(2010)
Ann Neurol
, vol.68
, pp. 876-887
-
-
Valstar, M.J.1
Neijs, S.2
Bruggenwirth, H.T.3
-
39
-
-
43149098040
-
Sanfilippo syndrome: A mini-review
-
Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA (2008) Sanfilippo syndrome: A mini-review. J Inherit Metab Dis 31:240-252
-
(2008)
J Inherit Metab Dis
, vol.31
, pp. 240-252
-
-
Valstar, M.J.1
Ruijter, G.J.2
Van Diggelen, O.P.3
Poorthuis, B.J.4
Wijburg, F.A.5
-
40
-
-
0019406297
-
Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)
-
van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA (1981) Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C). Clin Genet 20:152-160 (Pubitemid 11027917)
-
(1981)
Clinical Genetics
, vol.20
, Issue.2
, pp. 152-160
-
-
Van De, K.J.J.P.1
Niermeijer, M.F.2
Von Figura, K.3
Giesberts, M.A.H.4
-
41
-
-
0003414725
-
-
Wolters-Noordhoff, Leiden
-
vanWieringen J, Wafelbakker F, Verbrugge H, de Haas J (1971) Growth diagrams 1965 Netherlands. Wolters-Noordhoff, Leiden, pp 1-69
-
(1971)
Growth Diagrams 1965 Netherlands
, pp. 1-69
-
-
VanWieringen, J.1
Wafelbakker, F.2
Verbrugge, H.3
De Haas, J.4
-
42
-
-
77954317461
-
Sanfilippo B in an elderly female psychiatric patient: A rare but relevant diagnosis in presenile dementia
-
VerhoevenWM, Csepan R, Marcelis CL, Lefeber DJ, Egger JI, Tuinier S (2010) Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia. Acta Psychiatr Scand 122:162-165
-
(2010)
Acta Psychiatr Scand
, vol.122
, pp. 162-165
-
-
Verhoeven, W.M.1
Csepan, R.2
Marcelis, C.L.3
Lefeber, D.J.4
Egger, J.I.5
Tuinier, S.6
-
43
-
-
0032953020
-
Sanfilippo type B syndrome (mucopolysaccharidosis III B): Allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes
-
Weber B, Guo XH, Kleijer WJ, van de Kamp JJ, Poorthuis BJ, Hopwood JJ (1999) Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to thewide spectrumof clinical phenotypes. Eur J Hum Genet 7:34-44 (Pubitemid 29179030)
-
(1999)
European Journal of Human Genetics
, vol.7
, Issue.1
, pp. 34-44
-
-
Weber, B.1
Guo, X.-H.2
Kleijer, W.J.3
Van De, K.J.J.P.4
Poorthuis, B.J.H.M.5
Hopwood, J.J.6
-
44
-
-
0030846848
-
Novel mutations in Sanfilippo A syndrome: Implications for enzyme function
-
DOI 10.1093/hmg/6.9.1573
-
Weber B, Guo XH, Wraith JE et al (1997) Novel mutations in Sanfilippo A syndrome: Implications for enzyme function. Hum Mol Genet 6:1573-1579 (Pubitemid 27397036)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.9
, pp. 1573-1579
-
-
Weber, B.1
Guo, X.-H.2
Wraith, J.Ed.3
Cooper, A.4
Kleijer, W.J.5
Bunge, S.6
Hopwood, J.J.7
-
45
-
-
84855590904
-
Orthopaedic aspects of mucopolysaccharidoses
-
White KK (2011) Orthopaedic aspects of mucopolysaccharidoses. Rheumatology 50(5):v26-v33
-
(2011)
Rheumatology
, vol.50
, Issue.5
-
-
White, K.K.1
-
46
-
-
1342285538
-
Humanmicrocephaly
-
Woods CG (2004) Humanmicrocephaly. Curr Opin Neurobiol 14:112-117
-
(2004)
Curr Opin Neurobiol
, vol.14
, pp. 112-117
-
-
Woods, C.G.1
-
47
-
-
52049124506
-
Initial report from the hunter outcome survey
-
Wraith JE, Beck M, Giugliani R, Clarke J, Martin R, Muenzer J (2008) Initial report from the hunter outcome survey. Genet Med 10:508-516
-
(2008)
Genet Med
, vol.10
, pp. 508-516
-
-
Wraith, J.E.1
Beck, M.2
Giugliani, R.3
Clarke, J.4
Martin, R.5
Muenzer, J.6
-
48
-
-
0034810802
-
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications
-
DOI 10.1002/humu.1189
-
Yogalingam G, Hopwood JJ (2001) Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications. Hum Mutat 18:264-281 (Pubitemid 32916858)
-
(2001)
Human Mutation
, vol.18
, Issue.4
, pp. 264-281
-
-
Yogalingam, G.1
Hopwood, J.J.2
-
49
-
-
0020613358
-
The natural history of the severe form of Hunter's syndrome: A study based on 52 cases
-
Young ID, Harper PS (1983) The natural history of the severe form of Hunter 's syndrome: A study based on 52 cases. Dev Med Child Neurol 25:481-489 (Pubitemid 13030892)
-
(1983)
Developmental Medicine and Child Neurology
, vol.25
, Issue.4
, pp. 481-489
-
-
Young, I.D.1
Harper, P.S.2
-
51
-
-
15844423859
-
The molecular basis of Sanfilippo syndrome type B
-
DOI 10.1073/pnas.93.12.6101
-
Zhao HG, Li HH, Bach G, Schmidtchen A, Neufeld EF (1996) The molecular basis of Sanfilippo syndrome type B. Proc Natl Acad Sci U S A 93:6101-6105 (Pubitemid 26190810)
-
(1996)
Proceedings of the National Academy of Sciences of the United States of America
, vol.93
, Issue.12
, pp. 6101-6105
-
-
Zhao, H.G.1
Li, H.H.2
Bach, G.3
Schmidtchen, A.4
Neufeld, E.F.5
|