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Volumn 46, Issue 1, 2011, Pages 39-41

A monozygotic twin pair with highly discordant Gaucher phenotypes

Author keywords

Gaucher disease; Glucocerebrosidase; Monozygotic twins; Seizures

Indexed keywords

CHITOTRIOSIDASE; DNA; GLUCOSYLCERAMIDASE; IMIGLUCERASE;

EID: 78650809398     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2010.10.007     Document Type: Article
Times cited : (55)

References (9)
  • 1
    • 0029868603 scopus 로고    scopus 로고
    • Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations
    • Kim J.-W., Liou B.B., Lai M.-Y., et al. Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations. Hum. Mutat. 1996, 7:214-218.
    • (1996) Hum. Mutat. , vol.7 , pp. 214-218
    • Kim, J.-W.1    Liou, B.B.2    Lai, M.-Y.3
  • 2
    • 0033911997 scopus 로고    scopus 로고
    • Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease
    • Koprivica V., Stone D.L., Park J.K., et al. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am. J. Hum. Genet. 2000, 66:1777-1786.
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 1777-1786
    • Koprivica, V.1    Stone, D.L.2    Park, J.K.3
  • 4
    • 77957859197 scopus 로고    scopus 로고
    • DNA methylation analysis of multiple tissues from newborn twins reveals both genetic and intrauterine components to variation in the human neonatal epigenome
    • Ollikainen M., Smith K.R., Joo E.J., et al. DNA methylation analysis of multiple tissues from newborn twins reveals both genetic and intrauterine components to variation in the human neonatal epigenome. Hum. Mol. Genet. 2010, 19:4176-4188.
    • (2010) Hum. Mol. Genet. , vol.19 , pp. 4176-4188
    • Ollikainen, M.1    Smith, K.R.2    Joo, E.J.3
  • 5
    • 36048935960 scopus 로고    scopus 로고
    • LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase
    • Reczek D., Schwake M., Schröder J., et al. LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase. Cell 2007, 131:770-783.
    • (2007) Cell , vol.131 , pp. 770-783
    • Reczek, D.1    Schwake, M.2    Schröder, J.3
  • 6
    • 4744343655 scopus 로고    scopus 로고
    • Gaucher disease: complexity in a "simple" disorder
    • Sidransky E. Gaucher disease: complexity in a "simple" disorder. Mol. Genet. Metab. 2004, 83:6-15.
    • (2004) Mol. Genet. Metab. , vol.83 , pp. 6-15
    • Sidransky, E.1
  • 7
    • 0033951675 scopus 로고    scopus 로고
    • Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease
    • Stone D.L., Tayebi N., Orvisky E., et al. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Hum. Mutat. 2000, 15:181-188.
    • (2000) Hum. Mutat. , vol.15 , pp. 181-188
    • Stone, D.L.1    Tayebi, N.2    Orvisky, E.3
  • 8
    • 71149083126 scopus 로고    scopus 로고
    • Gaucher disease patient with myoclonus epilepsy and a novel mutation
    • Tajima A., Ohashi T., Hamano S., et al. Gaucher disease patient with myoclonus epilepsy and a novel mutation. Pediatr. Neurol. 2010, 42:65-68.
    • (2010) Pediatr. Neurol. , vol.42 , pp. 65-68
    • Tajima, A.1    Ohashi, T.2    Hamano, S.3
  • 9
    • 0037371235 scopus 로고    scopus 로고
    • Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease
    • Tayebi N., Stubblefield B.K., Park J.K., et al. Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease. Am. J. Hum. Genet. 2003, 72:519-534.
    • (2003) Am. J. Hum. Genet. , vol.72 , pp. 519-534
    • Tayebi, N.1    Stubblefield, B.K.2    Park, J.K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.