메뉴 건너뛰기




Volumn 63, Issue 1, 2006, Pages 129-131

Atypical Gilles de la Tourette syndrome with β-mannosidase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

BETA MANNOSIDASE; DISACCHARIDE;

EID: 30344446632     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.63.1.129     Document Type: Article
Times cited : (35)

References (12)
  • 1
    • 0035909663 scopus 로고    scopus 로고
    • Tourette's syndrome
    • Jankovic J. Tourette's syndrome. N Engl J Med. 2001;345:1184-1192.
    • (2001) N Engl J Med , vol.345 , pp. 1184-1192
    • Jankovic, J.1
  • 2
    • 0034131162 scopus 로고    scopus 로고
    • Protein glycosylation and diseases: Blood and urinary oligosaccharides as markers for diagnosis and therapeutic monitoring
    • Durand G, Seta N. Protein glycosylation and diseases: blood and urinary oligosaccharides as markers for diagnosis and therapeutic monitoring. Clin Chem. 2000;46:795-805.
    • (2000) Clin Chem , vol.46 , pp. 795-805
    • Durand, G.1    Seta, N.2
  • 3
    • 0036924461 scopus 로고    scopus 로고
    • Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations
    • Bedilu R, Nummy KA, Cooper A, et al. Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations. Mol Genet Metab. 2002;77:282-290.
    • (2002) Mol Genet Metab , vol.77 , pp. 282-290
    • Bedilu, R.1    Nummy, K.A.2    Cooper, A.3
  • 4
    • 0042635679 scopus 로고    scopus 로고
    • Morphological and biochemical studies of human beta-mannosidosis: Identification of a novel beta-mannosidase gene mutation
    • Uchino Y, Fukushige T, Yotsumoto S, et al. Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation. Br J Dermatol. 2003;149:23-29.
    • (2003) Br J Dermatol , vol.149 , pp. 23-29
    • Uchino, Y.1    Fukushige, T.2    Yotsumoto, S.3
  • 6
    • 0029987496 scopus 로고    scopus 로고
    • Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency
    • Rodriguez-Serna M, Botella-Estrada R, Chabas A, et al. Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency. Arch Dermatol. 1996;132:1219-1222.
    • (1996) Arch Dermatol , vol.132 , pp. 1219-1222
    • Rodriguez-Serna, M.1    Botella-Estrada, R.2    Chabas, A.3
  • 8
    • 0028156828 scopus 로고
    • Human beta-mannosidase deficiency associated with peripheral neuropathy
    • Levade T, Graber D, Flurin V, et al. Human beta-mannosidase deficiency associated with peripheral neuropathy. Ann Neurol. 1994;35:116-119.
    • (1994) Ann Neurol , vol.35 , pp. 116-119
    • Levade, T.1    Graber, D.2    Flurin, V.3
  • 10
    • 0031975110 scopus 로고    scopus 로고
    • Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis
    • Alkhayat AH, Kraemer SA, Leipprandt JR, Macek M, Kleijer WJ, Friderici KH. Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis. Hum Mol Genet. 1998;7:75-83.
    • (1998) Hum Mol Genet , vol.7 , pp. 75-83
    • Alkhayat, A.H.1    Kraemer, S.A.2    Leipprandt, J.R.3    Macek, M.4    Kleijer, W.J.5    Friderici, K.H.6
  • 11
    • 0033365190 scopus 로고    scopus 로고
    • A complete genome screen in sib-pairs affected with Gilles de la Tourette syndrome
    • Tourette Syndrome Association International Consortium for Genetics. A complete genome screen in sib-pairs affected with Gilles de la Tourette syndrome. Am J Hum Genet. 1999;65:1428-1436.
    • (1999) Am J Hum Genet , vol.65 , pp. 1428-1436
  • 12
    • 0036201494 scopus 로고    scopus 로고
    • Genomewide scan of hoarding in sib pairs in which both sibs have Gilles de la Tourette syndrome
    • Zhang H, Leckman JF, Pauls DL, Tsai CP, Kidd KK, Campos MR; Tourette Syndrome Association International Consortium for Genetics. Genomewide scan of hoarding in sib pairs in which both sibs have Gilles de la Tourette syndrome. Am J Hum Genet. 2002;70:896-904.
    • (2002) Am J Hum Genet , vol.70 , pp. 896-904
    • Zhang, H.1    Leckman, J.F.2    Pauls, D.L.3    Tsai, C.P.4    Kidd, K.K.5    Campos, M.R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.