메뉴 건너뛰기




Volumn 37, Issue 3, 2014, Pages 431-437

Natural history of Sanfilippo syndrome type A

Author keywords

[No Author keywords available]

Indexed keywords

ADAPTIVE BEHAVIOR; ADOLESCENT; AGGRESSION; ARTICLE; BEHAVIOR CHANGE; CHEWING DIFFICULTY; CHILD; CHILD REARING; CLINICAL ARTICLE; CONTROLLED STUDY; EVALUATION STUDY; FACE DEFORMITY; FEMALE; GROWTH; HEAD AND NECK DISEASE; HEARING IMPAIRMENT; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEPATOMEGALY; HUMAN; HYPERACTIVITY; INFANT; LANGUAGE; LANGUAGE DELAY; MALE; MASTICATION; MOTOR PERFORMANCE; RETROSPECTIVE STUDY; SANFILIPPO SYNDROME; SANFILIPPO SYNDROME TYPE A; SLEEP DISORDER; SPEECH; SPEECH DELAY; TERATOLOGY; TONGUE DISEASE; TOOTH MALFORMATION; COGNITION; HEARING LOSS; MUCOPOLYSACCHARIDOSIS III; PRESCHOOL CHILD; PSYCHOLOGY;

EID: 84904209461     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-013-9661-8     Document Type: Article
Times cited : (68)

References (23)
  • 4
    • 79958232023 scopus 로고    scopus 로고
    • Enzyme replacement reduces neuropathology in MPS IIIA dogs
    • Crawley AC, Marshall N, Beard H et al (2011) Enzyme replacement reduces neuropathology in MPS IIIA dogs. Neurobiol Dis 43:422-434
    • (2011) Neurobiol Dis , vol.43 , pp. 422-434
    • Crawley, A.C.1    Marshall, N.2    Beard, H.3
  • 7
    • 84881228888 scopus 로고    scopus 로고
    • Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy
    • doi:10.1172/JCI66778
    • Haurigot V, Marco S, Ribera A et al (2013) Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy. J Clin Invest. doi:10.1172/JCI66778
    • (2013) J Clin Invest
    • Haurigot, V.1    Marco, S.2    Ribera, A.3
  • 8
    • 78650661227 scopus 로고    scopus 로고
    • Incidence and natural history ofmucopolysaccharidosis type III in France and comparison with United Kingdom and Greece
    • Héron B, Mikaeloff Y, Froissart R et al (2011) Incidence and natural history ofmucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. Am J Med Genet A 155A:58-68
    • (2011) Am J Med Genet A , vol.155 A , pp. 58-68
    • Héron, B.1    Mikaeloff, Y.2    Froissart, R.3
  • 9
    • 70349555987 scopus 로고    scopus 로고
    • 2000 CDC growth charts for the United States: Methods and development. National Center for Health Statistics
    • Kuczmarski RJ, Ogden CL, Guo SS et al (2002) 2000 CDC growth charts for the United States: methods and development. National Center for Health Statistics. Vital Health Stat 11:246
    • (2002) Vital Health Stat , vol.11 , pp. 246
    • Kuczmarski, R.J.1    Ogden, C.L.2    Guo, S.S.3
  • 10
    • 84864564603 scopus 로고    scopus 로고
    • Hematopoietic stem cell and gene therapy corrects primary neuropathology and behavior in mucopolysaccharidosis IIIA mice
    • Langford-Smith A, Wilkinson FL, Langford-Smith KJ et al (2012) Hematopoietic stem cell and gene therapy corrects primary neuropathology and behavior in mucopolysaccharidosis IIIA mice. Mol Ther: J Am Soc Gene Ther 20:1610-1621
    • (2012) Mol Ther: J Am Soc Gene Ther , vol.20 , pp. 1610-1621
    • Langford-Smith, A.1    Wilkinson, F.L.2    Langford-Smith, K.J.3
  • 11
    • 77954380975 scopus 로고    scopus 로고
    • Mucopolysaccharidosis type III (Sanfilippo disease) in Sweden: Clinical presentation of 22 children diagnosed during a 30-year period
    • Malm G, Mansson JE (2010) Mucopolysaccharidosis type III (Sanfilippo disease) in Sweden: clinical presentation of 22 children diagnosed during a 30-year period. Acta Paediatr 99: 1253-1257
    • (2010) Acta Paediatr , vol.99 , pp. 1253-1257
    • Malm, G.1    Mansson, J.E.2
  • 13
    • 36048940302 scopus 로고    scopus 로고
    • Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A)
    • DOI 10.1542/peds.2007-0282
    • Meyer A, Kossow K, Gal A et al (2007) Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). Pediatrics 120:e1255-e1261 (Pubitemid 350085522)
    • (2007) Pediatrics , vol.120 , Issue.5
    • Meyer, A.1    Kossow, K.2    Gal, A.3    Muhlhausen, C.4    Ullrich, K.5    Braulke, T.6    Muschol, N.7
  • 14
    • 49849105437 scopus 로고    scopus 로고
    • The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)
    • Meyer A, Kossow K, Gal A et al (2008) The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome). Hum Mutat 29:770
    • (2008) Hum Mutat , vol.29 , pp. 770
    • Meyer, A.1    Kossow, K.2    Gal, A.3
  • 16
    • 79953703689 scopus 로고    scopus 로고
    • Two-year follow-up of Sanfilippo Disease patients treated with a genistein-rich isoflavone extract: Assessment of effects on cognitive functions and general status of patients
    • Piotrowska E, Jakobkiewicz-Banecka J, Maryniak A et al (2011) Two-year follow-up of Sanfilippo Disease patients treated with a genistein-rich isoflavone extract: assessment of effects on cognitive functions and general status of patients. Med Sci Monit 17:CR196-CR202
    • (2011) Med Sci Monit , vol.17
    • Piotrowska, E.1    Jakobkiewicz-Banecka, J.2    Maryniak, A.3
  • 17
    • 53449089638 scopus 로고    scopus 로고
    • Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: Influence of cellular composition of the graft on transplantation outcomes
    • Prasad VK, Mendizabal A, Parikh SH, Szabolcs P et al (2008) Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: influence of cellular composition of the graft on transplantation outcomes. Blood 112:2979-2989
    • (2008) Blood , vol.112 , pp. 2979-2989
    • Prasad, V.K.1    Mendizabal, A.2    Parikh, S.H.3    Szabolcs, P.4
  • 20
    • 78650905961 scopus 로고    scopus 로고
    • Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype-phenotype correlations
    • Valstar MJ, Neijs S, Bruggenwirth HT et al (2010) 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
  • 21
    • 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 (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
  • 22
    • 0034810802 scopus 로고    scopus 로고
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.