-
2
-
-
0032780351
-
The frequency of lysosomal storage diseases in The Netherlands
-
DOI 10.1007/s004399900075
-
Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 1999;105:151-6. (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
-
3
-
-
53749104461
-
Mucopolysaccharidoses in the scandinavian countries: Incidence and prevalence
-
Malm G, Lund AM, Månsson JE, Heiberg A. Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence. Acta Paediatr 2008;97:1577-81.
-
(2008)
Acta Paediatr
, vol.97
, pp. 1577-1578
-
-
Malm, G.1
Lund, A.M.2
Månsson, J.E.3
Heiberg, A.4
-
4
-
-
10744233030
-
Prevalence of lysosomal storage diseases in portugal
-
Pinto R, Caseiro C, Lemos M, Lopes L, Fontes A, Ribeiro H, et al. Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet 2004; 12:87-92.
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 87-89
-
-
Pinto, R.1
Caseiro, C.2
Lemos, M.3
Lopes, L.4
Fontes, A.5
Ribeiro, H.6
-
6
-
-
66849115638
-
Incidence of the mucopolysaccharidoses in taiwan 1984-2004
-
Lin HY, Lin SP, Chuang CK, Niu DM, Chen MR, Tsai FJ, et al. Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004. Am J Med Genet A 2009;149A:960-4.
-
(2009)
Am J Med Genet A
, vol.149 A
, pp. 960-964
-
-
Lin, H.Y.1
Lin, S.P.2
Chuang, C.K.3
Niu, D.M.4
Chen, M.R.5
Tsai, F.J.6
-
7
-
-
43149098040
-
Sanfilippo syndrome: A mini-review
-
Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis 2008;31:240-52.
-
(2008)
J Inherit Metab Dis
, vol.31
, pp. 240-245
-
-
Valstar, M.J.1
Ruijter, G.J.2
Van Diggelen, O.P.3
Poorthuis, B.J.4
Wijburg, F.A.5
-
8
-
-
16544362283
-
Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis iii-c in two sisters
-
Berger-Plantinga EG, Vanneste JA, Groener JE, van Schooneveld MJ. Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters. J Neurol 2004;251:479-81.
-
(2004)
J Neurol
, vol.251
, pp. 479-478
-
-
Berger-Plantinga, E.G.1
Vanneste, J.A.2
Groener, J.E.3
Van Schooneveld, M.J.4
-
9
-
-
33749024739
-
Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis iiic (sanfilippo disease type c
-
Fan X, Zhang H, Zhang S, Bagshaw RD, Tropak MB, Callahan JW, et al. Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). Am J Hum Genet 2006; 79:738-44.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 738-734
-
-
Fan, X.1
Zhang, H.2
Zhang, S.3
Bagshaw, R.D.4
Tropak, M.B.5
Callahan, J.W.6
-
10
-
-
33751117228
-
Mutations in tmem76. Cause mucopolysaccharidosis iiic (sanfilippo c syndrome)
-
Hrebícek M, Mrázová L, Seyrantepe V, Durand S, Roslin NM, Nosková L, et al. Mutations in TMEM76. cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Am J Hum Genet 2006;79:807-19.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 807-801
-
-
Hrebícek, M.1
Mrázová, L.2
Seyrantepe, V.3
Durand, S.4
Roslin, N.M.5
Nosková, L.6
-
11
-
-
0037390834
-
Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated korean hunter syndrome patients: Identification of 13 novel mutations
-
Kim CH, Hwang HZ, Song SM, Paik KH, Kwon EK, Moon KB, et al. Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations. Hum Mutat 2003;21:449-50.
-
(2003)
Hum Mutat
, vol.21
, pp. 449-445
-
-
Kim, C.H.1
Hwang, H.Z.2
Song, S.M.3
Paik, K.H.4
Kwon, E.K.5
Moon, K.B.6
-
12
-
-
78649641874
-
A mother and daughter with the p.r443x mutation of mucopolysaccharidosis type ii: Genotype and phenotype analysis
-
Sohn YB, Kim SJ, Park SW, Park HD, Ki CS, Kim CH, et al. A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis. Am J Med Genet A 2010;152A: 3129-32.
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 3129-3123
-
-
Sohn, Y.B.1
Kim, S.J.2
Park, S.W.3
Park, H.D.4
Ki, C.S.5
Kim, C.H.6
-
13
-
-
79956217251
-
High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type ii (hunter syndrome
-
Kwon JY, Ko K, Sohn YB, Kim SJ, Park SW, Kim SH, et al. High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome). Am J Med Genet A 2011;155A:1329-35.
-
(2011)
Am J Med Genet A
, vol.155 A
, pp. 1329-1323
-
-
Kwon, J.Y.1
Ko, K.2
Sohn, Y.B.3
Kim, S.J.4
Park, S.W.5
Kim, S.H.6
-
14
-
-
84355161492
-
Retrospective analysis of the clinical manifestations and survival of korean patients with mucopolysaccharidosis type ii: Emphasis on the cardiovascular complication and mortality cases
-
Sohn YB, Choi EW, Kim SJ, Park SW, Kim SH, Cho SY, et al. Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: Emphasis on the cardiovascular complication and mortality cases. Am J Med Genet A 2011;158A:90-6.
-
(2011)
Am J Med Genet A
, vol.158 A
, pp. 90-96
-
-
Sohn, Y.B.1
Choi, E.W.2
Kim, S.J.3
Park, S.W.4
Kim, S.H.5
Cho, S.Y.6
-
15
-
-
84855970343
-
Identification of 11 novel mutations in 49 korean patients with mucopolysaccharidosis type ii
-
Sohn YB, Ki CS, Kim CH, Ko AR, Yook YJ, Lee SJ, et al. Identification of 11 novel mutations in 49 Korean patients with Mucopolysaccharidosis type II. Clin Genet 2012;81:185-90.
-
(2012)
Clin Genet
, vol.81
, pp. 185-189
-
-
Sohn, Y.B.1
Ki, C.S.2
Kim, C.H.3
Ko, A.R.4
Yook, Y.J.5
Lee, S.J.6
-
16
-
-
52649083070
-
Clinical and laboratory features of korean mucopolysaccharidoses (mpss
-
Sohn WY, Lee JH, Paik KH, Kwon EK, Kim AH, Jin DK. Clinical and laboratory features of Korean mucopolysaccharidoses (MPSs). Korean J Pediatr 2005;48:1132-8.
-
(2005)
Korean J Pediatr
, vol.48
, pp. 1132-1138
-
-
Sohn, W.Y.1
Lee, J.H.2
Paik, K.H.3
Kwon, E.K.4
Kim, A.H.5
Jin, D.K.6
-
17
-
-
0027161859
-
A fluorimetric enzyme assay for the diagnosis of sanfilippo disease c (mps iii c
-
Voznyi YaV, Karpova EA, Dudukina TV, Tsvetkova IV, Boer AM, Janse HC, et al. A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C). J Inherit Metab Dis 1993;16:465-72.
-
(1993)
J Inherit Metab Dis
, vol.16
, pp. 465-467
-
-
Voznyi, YaV.1
Karpova, E.A.2
Dudukina, T.V.3
Tsvetkova, I.V.4
Boer, A.M.5
Janse, H.C.6
-
18
-
-
38049115253
-
Clinical and genetic spectrum of sanfilippo type c (mps iiic) disease in the netherlands
-
Ruijter GJ, Valstar MJ, van de Kamp JM, van der Helm RM, Durand S, van Diggelen OP, et al. Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol Genet Metab 2008;93: 104-11.
-
(2008)
Mol Genet Metab
, vol.93
, pp. 104-101
-
-
Ruijter, G.J.1
Valstar, M.J.2
Van De Kamp, J.M.3
Van Der Helm, R.M.4
Durand, S.5
Van Diggelen, O.P.6
-
19
-
-
66349117008
-
Sanfilippo syndrome type c: Mutation spectrum in the heparan sulfate acetyl-coa: Alpha-glucosaminide n-Acetyltransferase (hgsnat) gene
-
Feldhammer M, Durand S, Mrázová L, Boucher RM, Laframboise R, Steinfeld R, et al. Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-Acetyltransferase (HGSNAT) gene. Hum Mutat 2009;30:918-25.
-
(2009)
Hum Mutat
, vol.30
, pp. 918-912
-
-
Feldhammer, M.1
Durand, S.2
Mrázová, L.3
Boucher, R.M.4
Laframboise, R.5
Steinfeld, R.6
-
20
-
-
80052618375
-
Molecular analysis of sanfilippo syndrome type c in spain: Seven novel hgsnat mutations and characterization of the mutant alleles
-
Canals I, Elalaoui SC, Pineda M, Delgadillo V, Szlago M, Jaouad IC, et al. Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles. Clin Genet 2011;80:367-74.
-
(2011)
Clin Genet
, vol.80
, pp. 367-367
-
-
Canals, I.1
Elalaoui, S.C.2
Pineda, M.3
Delgadillo, V.4
Szlago, M.5
Jaouad, I.C.6
-
21
-
-
34250622878
-
Mutational analysis of the hgsnat gene in italian patients with mucopolysaccharidosis iiic (sanfilippo c syndrome). Mutation in brief #959. Online
-
Fedele AO, Filocamo M, Di Rocco M, Sersale G, Lübke T, di Natale P, et al. Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online. Hum Mutat 2007;28:523.
-
(2007)
Hum Mutat
, vol.28
, pp. 523
-
-
Fedele, A.O.1
Filocamo, M.2
Di Rocco, M.3
Sersale, G.4
Lübke, T.5
Di Natale, P.6
|