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Volumn 38, Issue 5, 2008, Pages 363-366

Dilated Perivascular Spaces: An Informative Radiologic Finding in Sanfilippo Syndrome Type A

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOSAMINOGLYCAN; HEPARAN SULFATE;

EID: 41849087005     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2008.01.009     Document Type: Article
Times cited : (20)

References (15)
  • 1
    • 0033601221 scopus 로고    scopus 로고
    • Expression and characterization of wild type and mutant recombinant human sulfamidase implications for Sanfilippo (mucopolysaccharidosis IIIA) syndrome
    • Perkins K.J., Byers S., Yogalingam G., Weber B., and Hopwood J.J. Expression and characterization of wild type and mutant recombinant human sulfamidase implications for Sanfilippo (mucopolysaccharidosis IIIA) syndrome. J Biol Chem 274 (1999) 37193-37199
    • (1999) J Biol Chem , vol.274 , pp. 37193-37199
    • Perkins, K.J.1    Byers, S.2    Yogalingam, G.3    Weber, B.4    Hopwood, J.J.5
  • 2
    • 33644917677 scopus 로고    scopus 로고
    • Toxic and metabolic brain disorders
    • Lippincott Williams & Wilkins, Philadelphia
    • Barkovich A.J. Toxic and metabolic brain disorders. Pediatric neuroimaging. 4th ed. (2005), Lippincott Williams & Wilkins, Philadelphia 134-137
    • (2005) Pediatric neuroimaging. 4th ed. , pp. 134-137
    • Barkovich, A.J.1
  • 3
    • 0019406297 scopus 로고
    • Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)
    • van de Kamp J.J.P., Niermeijer M.F., von Figura K., and Giesberts M.A. Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C). Clin Genet 20 (1981) 152-160
    • (1981) Clin Genet , vol.20 , pp. 152-160
    • van de Kamp, J.J.P.1    Niermeijer, M.F.2    von Figura, K.3    Giesberts, M.A.4
  • 4
    • 0036903078 scopus 로고    scopus 로고
    • An adult Japanese Sanfilippo A patient with novel compound heterozygous S347F and D444G mutations in the sulphamidase gene
    • Miyazaki T., Masuda N., Waragai M., Motoyoshi Y., Kurokawa K., and Yuasa T. An adult Japanese Sanfilippo A patient with novel compound heterozygous S347F and D444G mutations in the sulphamidase gene. J Neurol Neurosurg Psychiatry 73 (2002) 777-778
    • (2002) J Neurol Neurosurg Psychiatry , vol.73 , pp. 777-778
    • Miyazaki, T.1    Masuda, N.2    Waragai, M.3    Motoyoshi, Y.4    Kurokawa, K.5    Yuasa, T.6
  • 5
    • 13444287759 scopus 로고    scopus 로고
    • Development of motor deficits in a murine model of mucopolysaccharidosis type IIIA (MPS-IIIA)
    • Hemsley K.M., and Hopwood J.J. Development of motor deficits in a murine model of mucopolysaccharidosis type IIIA (MPS-IIIA). Behav Brain Res 158 (2005) 191-199
    • (2005) Behav Brain Res , vol.158 , pp. 191-199
    • Hemsley, K.M.1    Hopwood, J.J.2
  • 6
    • 0030846848 scopus 로고    scopus 로고
    • Novel mutations in Sanfilippo A syndrome: implications for enzyme function
    • Weber B., Guo X.H., Wraith J.E., et al. Novel mutations in Sanfilippo A syndrome: implications for enzyme function. Hum Mol Genet 6 (1997) 1573-1579
    • (1997) Hum Mol Genet , vol.6 , pp. 1573-1579
    • Weber, B.1    Guo, X.H.2    Wraith, J.E.3
  • 7
    • 0034854439 scopus 로고    scopus 로고
    • Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients
    • Perkins K.J., Muller V., Weber B., and Hopwood J.J. Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients. Mol Genet Metab 73 (2001) 306-312
    • (2001) Mol Genet Metab , vol.73 , pp. 306-312
    • Perkins, K.J.1    Muller, V.2    Weber, B.3    Hopwood, J.J.4
  • 8
    • 0023618630 scopus 로고
    • The value of computed tomography in patients with mucopolysaccharidosis
    • Nelson J., and Grebbell F.S. The value of computed tomography in patients with mucopolysaccharidosis. Neuroradiology 29 (1987) 544-549
    • (1987) Neuroradiology , vol.29 , pp. 544-549
    • Nelson, J.1    Grebbell, F.S.2
  • 9
    • 19444377987 scopus 로고    scopus 로고
    • Unexplained mental retardation: is brain MRI useful?
    • Decobert F., Grabar S., Merzoug V., et al. Unexplained mental retardation: is brain MRI useful?. Pediatr Radiol 35 (2005) 587-596
    • (2005) Pediatr Radiol , vol.35 , pp. 587-596
    • Decobert, F.1    Grabar, S.2    Merzoug, V.3
  • 10
    • 0021949616 scopus 로고
    • Sanfilippo disease, type A with some features of ceroid lipofuscinosis
    • Wisniewski K., Rudelli R., Laure-Kamionowska M., et al. Sanfilippo disease, type A with some features of ceroid lipofuscinosis. Neuropediatrics 16 (1985) 98-105
    • (1985) Neuropediatrics , vol.16 , pp. 98-105
    • Wisniewski, K.1    Rudelli, R.2    Laure-Kamionowska, M.3
  • 11
    • 1542348953 scopus 로고    scopus 로고
    • Correlation between cerebral MRI abnormalities and mental retardation in patients with mucopolysaccharidoses
    • Gabrielli O., Polonara G., Regnicolo L., et al. Correlation between cerebral MRI abnormalities and mental retardation in patients with mucopolysaccharidoses. Am J Med Genet A 125A (2004) 224-231
    • (2004) Am J Med Genet A , vol.125 A , pp. 224-231
    • Gabrielli, O.1    Polonara, G.2    Regnicolo, L.3
  • 13
    • 0031881355 scopus 로고    scopus 로고
    • Clinical and neuroradiological evaluation of long-term surviving siblings of Sanfilippo syndrome A type
    • [In Japanese]
    • Date Y., Ohi T., Shioya K., Sukegawa K., and Matsukura S. Clinical and neuroradiological evaluation of long-term surviving siblings of Sanfilippo syndrome A type. [In Japanese]. No To Shinkei 50 (1998) 165-169
    • (1998) No To Shinkei , vol.50 , pp. 165-169
    • Date, Y.1    Ohi, T.2    Shioya, K.3    Sukegawa, K.4    Matsukura, S.5
  • 14
    • 0031827245 scopus 로고    scopus 로고
    • Cerebrospinal fluid shunts in the management of behavioural problems in Sanfilippo syndrome (MPS III)
    • Robertson S.P., Klug G.L., and Rogers J.G. Cerebrospinal fluid shunts in the management of behavioural problems in Sanfilippo syndrome (MPS III). Eur J Pediatr 157 (1998) 653-655
    • (1998) Eur J Pediatr , vol.157 , pp. 653-655
    • Robertson, S.P.1    Klug, G.L.2    Rogers, J.G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.