-
2
-
-
25144481848
-
Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)
-
Beesley CE, Jackson M, Young EP, Vellodi A, Winchester BG. 2005. Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB). J Inherit Metab Dis 28: 759-767.
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 759-767
-
-
Beesley, C.E.1
Jackson, M.2
Young, E.P.3
Vellodi, A.4
Winchester, B.G.5
-
3
-
-
0032939916
-
Mucopolysaccharidosis type IIIB (Sanfilippo B): Identification of 18 novel alpha-N-acetylglucosaminidase gene mutations
-
Bunge S, Knigge A, Steglich C, Kleijer WJ, van Diggelen OP, Beck M, Gal A. 1999. Mucopolysaccharidosis type IIIB (Sanfilippo B): Identification of 18 novel alpha-N-acetylglucosaminidase gene mutations. J Med Genet 36:28-31.
-
(1999)
J Med Genet
, vol.36
, pp. 28-31
-
-
Bunge, S.1
Knigge, A.2
Steglich, C.3
Kleijer, W.J.4
van Diggelen, O.P.5
Beck, M.6
Gal, A.7
-
4
-
-
23944490648
-
Sanfilippo type B syndrome: Five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan
-
Chinen Y, Tohma T, Izumikawa Y, Uehara H, Ohta T. 2005. Sanfilippo type B syndrome: Five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan. J Hum Genet 50:357-359.
-
(2005)
J Hum Genet
, vol.50
, pp. 357-359
-
-
Chinen, Y.1
Tohma, T.2
Izumikawa, Y.3
Uehara, H.4
Ohta, T.5
-
5
-
-
0027487001
-
Management of mucopolysaccharidosis type III
-
Cleary MA, Wraith JE. 1993. Management of mucopolysaccharidosis type III. Arch Dis Child 69:403-406.
-
(1993)
Arch Dis Child
, vol.69
, pp. 403-406
-
-
Cleary, M.A.1
Wraith, J.E.2
-
7
-
-
0036617012
-
Rational evaluation of the adolescent with mental retardation
-
Curry CJ. 2002. Rational evaluation of the adolescent with mental retardation. Adolesc Med 13:331-343.
-
(2002)
Adolesc Med
, vol.13
, pp. 331-343
-
-
Curry, C.J.1
-
8
-
-
0030862260
-
-
American College of Medical Genetics. Am J Med Genet
-
Curry CJ, Stevenson RE, Aughton D, Byrne J, Carey JC, Cassidy S, Cunniff C, Graham JMJr, Jones MC, Kaback MM, Moeschler J, Schaefer GB, Schwartz S, Tarleton J, Opitz J. 1997. Evaluation of mental retardation: Recommendations of a Consensus Conference: American College of Medical Genetics. Am J Med Genet 72:468-477.
-
(1997)
Evaluation of mental retardation: Recommendations of a Consensus Conference
, vol.72
, pp. 468-477
-
-
Curry, C.J.1
Stevenson, R.E.2
Aughton, D.3
Byrne, J.4
Carey, J.C.5
Cassidy, S.6
Cunniff, C.7
JMJr, G.8
Jones, M.C.9
Kaback, M.M.10
Moeschler, J.11
Schaefer, G.B.12
Schwartz, S.13
Tarleton, J.14
Opitz, J.15
-
9
-
-
0345268640
-
Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): A survey of managing clinicians
-
Fraser J, Wraith JE, Delatycki MB. 2002. Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): A survey of managing clinicians. Clin Genet 62:418-421.
-
(2002)
Clin Genet
, vol.62
, pp. 418-421
-
-
Fraser, J.1
Wraith, J.E.2
Delatycki, M.B.3
-
10
-
-
28444479825
-
Sleep disturbance in Sanfilippo syndrome: A parental questionnaire study
-
Fraser J, Gason AA, Wraith JE, Delatycki MB. 2005. Sleep disturbance in Sanfilippo syndrome: A parental questionnaire study. Arch Dis Child 90:1239-1242.
-
(2005)
Arch Dis Child
, vol.90
, pp. 1239-1242
-
-
Fraser, J.1
Gason, A.A.2
Wraith, J.E.3
Delatycki, M.B.4
-
11
-
-
24144485784
-
Transplantation of human umbilical cord blood cells benefits an animal model of Sanfilippo type B
-
Garbuzova-Davis S, Willing AE, Desjarlais T, Sanberg CD, Sanberg PR. 2005. Transplantation of human umbilical cord blood cells benefits an animal model of Sanfilippo type B. Stem Cells Dev 14:383-394.
-
(2005)
Stem Cells Dev
, vol.14
, pp. 383-394
-
-
Garbuzova-Davis, S.1
Willing, A.E.2
Desjarlais, T.3
Sanberg, C.D.4
Sanberg, P.R.5
-
12
-
-
34548099516
-
-
Hoefnagel CWM. 1989. OOB. In: Oud en Zwakzinnig. Mentale Retardatie Vanuit Psychologische Optiek. Lisse: Swets & Zeitlinger.
-
Hoefnagel CWM. 1989. OOB. In: Oud en Zwakzinnig. Mentale Retardatie Vanuit Psychologische Optiek. Lisse: Swets & Zeitlinger.
-
-
-
-
13
-
-
19244379262
-
Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)
-
Lee Chen GJ, Lin SP, Lin SZ, Chuang CK, Hsiao KT, Huang CF, Lien WC. 2002. Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). J Med Genet 39:E3.
-
(2002)
J Med Genet
, vol.39
-
-
Lee Chen, G.J.1
Lin, S.P.2
Lin, S.Z.3
Chuang, C.K.4
Hsiao, K.T.5
Huang, C.F.6
Lien, W.C.7
-
14
-
-
34548058696
-
-
Moog U, Schoonbrood-Lenssen AMJ, Wagemans A, Spaapen LJM, de Die-Smulders CEM. 1998. De ziekte van Sanfilippo type B: Ondergediagnosticeerd bij verstandelijk gehandicapten? NTZ 3:161-166.
-
(1998)
De ziekte van Sanfilippo type B: Ondergediagnosticeerd bij verstandelijk gehandicapten
, vol.NTZ 3
, pp. 161-166
-
-
Moog, U.1
Schoonbrood-Lenssen, A.M.J.2
Wagemans, A.3
Spaapen, L.J.M.4
de Die-Smulders, C.E.M.5
-
15
-
-
33745279635
-
Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses
-
Piotrowska E, Jakobkiewicz Banecka J, Baranska S, Tylki Szymanska A, Czartoryska B, Wegrzyn A, Wegrzyn G. 2006. Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses. Eur J Hum Genet 14:846-852.
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 846-852
-
-
Piotrowska, E.1
Jakobkiewicz Banecka, J.2
Baranska, S.3
Tylki Szymanska, A.4
Czartoryska, B.5
Wegrzyn, A.6
Wegrzyn, G.7
-
16
-
-
0035082624
-
Metabolic studies in older mentally retarded patients: Significance of metabolic testing and correlation with the clinical phenotype
-
Van Buggenhout GJCM, Trijbels JMF, Wevers R, Trommelen JCM, Hamel BCJ, Brunner HG, Fryns JP. 2001. Metabolic studies in older mentally retarded patients: Significance of metabolic testing and correlation with the clinical phenotype. Genet Couns 12:1-21.
-
(2001)
Genet Couns
, vol.12
, pp. 1-21
-
-
Van Buggenhout, G.J.C.M.1
Trijbels, J.M.F.2
Wevers, R.3
Trommelen, J.C.M.4
Hamel, B.C.J.5
Brunner, H.G.6
Fryns, J.P.7
-
17
-
-
0017109235
-
Clinical variability in Sanfilippo B disease: A report on six patients in two related sibships
-
Van de Kamp JJ, van Pelt JF, Liem KO, Giesberts MA, Niepoth LT, Staalman CR. 1976. Clinical variability in Sanfilippo B disease: A report on six patients in two related sibships. Clin Genet 10:279-284.
-
(1976)
Clin Genet
, vol.10
, pp. 279-284
-
-
Van de Kamp, J.J.1
van Pelt, J.F.2
Liem, K.O.3
Giesberts, M.A.4
Niepoth, L.T.5
Staalman, C.R.6
-
18
-
-
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.
-
(1981)
Clin Genet
, vol.20
, pp. 152-160
-
-
Van de Kamp, J.J.1
Niermeijer, M.F.2
von Figura, K.3
Giesberts, M.A.4
-
20
-
-
0029994363
-
Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)
-
Weber B, Blanch L, Clements PR, Scott HS, Hopwood JJ. 1996. Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B). Hum Mol Genet 5:771-777.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 771-777
-
-
Weber, B.1
Blanch, L.2
Clements, P.R.3
Scott, H.S.4
Hopwood, J.J.5
-
21
-
-
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 the wide spectrum of clinical phenotypes. Eur J Hum Genet 7:34-44.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 34-44
-
-
Weber, B.1
Guo, X.H.2
Kleijer, W.J.3
Van de Kamp, J.J.4
Poorthuis, B.J.5
Hopwood, J.J.6
-
22
-
-
0034810802
-
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications
-
Yogalingam G, Hopwood JJ. 2001. Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications. Hum Mutat 18: 264-281.
-
(2001)
Hum Mutat
, vol.18
, pp. 264-281
-
-
Yogalingam, G.1
Hopwood, J.J.2
-
23
-
-
0034670152
-
Mucopolysaccharidosis type IIIB: Characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient
-
Yogalingam G, Weber B, Meehan J, Rogers J, Hopwood JJ. 2000. Mucopolysaccharidosis type IIIB: Characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient. Biochim Biophys Acta 1502:415-425.
-
(2000)
Biochim Biophys Acta
, vol.1502
, pp. 415-425
-
-
Yogalingam, G.1
Weber, B.2
Meehan, J.3
Rogers, J.4
Hopwood, J.J.5
-
24
-
-
0031939728
-
Genotype-phenotype correspondence in Sanfilippo syndrome type B
-
Zhao HG, Aronovich EL, Whitley CB. 1998. Genotype-phenotype correspondence in Sanfilippo syndrome type B. Am J Hum Genet 62:53-63.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 53-63
-
-
Zhao, H.G.1
Aronovich, E.L.2
Whitley, C.B.3
-
25
-
-
4043174204
-
Retrovirally transduced bone marrow has a therapeutic effect on brain in the mouse model of mucopolysaccharidosis IIIB
-
Zheng Y, Ryazantsev S, Ohmi K, Zhao HZ, Rozengurt N, Kohn DB, Neufeld EF 2004. Retrovirally transduced bone marrow has a therapeutic effect on brain in the mouse model of mucopolysaccharidosis IIIB. Mol Genet Metab 82:286-295.
-
(2004)
Mol Genet Metab
, vol.82
, pp. 286-295
-
-
Zheng, Y.1
Ryazantsev, S.2
Ohmi, K.3
Zhao, H.Z.4
Rozengurt, N.5
Kohn, D.B.6
Neufeld, E.F.7
|