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Volumn 145, Issue 3, 2007, Pages 293-301

Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?

Author keywords

Adult phenotype; Aging; Natural history; Sanfilippo type B

Indexed keywords

ADULT; AGING; ARTHRITIS; ARTICLE; BEHAVIOR DISORDER; BONE DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE COURSE; FACIES; FEEDING; FEMALE; FOLLOW UP; HEART DISEASE; HERNIA; HUMAN; INCONTINENCE; MALE; MENTAL DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL; SANFILIPPO SYNDROME; SEIZURE; SKIN DISEASE;

EID: 34548087323     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30142     Document Type: Article
Times cited : (59)

References (25)
  • 3
    • 0032939916 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 9
    • 0345268640 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 15
  • 18
    • 0019406297 scopus 로고
    • 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
  • 19
  • 20
    • 0029994363 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.