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Volumn 163, Issue 3, 2007, Pages 359-361

Adult leukoencephalopathy caused by alpha-mannosidosis deficiency;Leucoencéphalopathie de l'adulte associée à un déficit en alpha-mannosidase

Author keywords

Alpha mannosidasis; Leucodystrophy; Paraparesis; Sspastic paraparesis

Indexed keywords

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; GAIT DISORDER; HUMAN; LABORATORY TEST; LEUKOENCEPHALOPATHY; MALE; MANNOSIDOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING;

EID: 33947611534     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0035-3787(07)90408-7     Document Type: Article
Times cited : (4)

References (14)
  • 1
    • 0032878293 scopus 로고    scopus 로고
    • Neurological impairment in alpha-mannosidosis: A longitudinal clinical and MRI study of a brother and sister
    • ARA JR, MAYAYO E, MARZO ME et al. (1999). Neurological impairment in alpha-mannosidosis: a longitudinal clinical and MRI study of a brother and sister. Child Nerv Syst, 15: 369-371.
    • (1999) Child Nerv Syst , vol.15 , pp. 369-371
    • ARA, J.R.1    MAYAYO, E.2    MARZO, M.E.3
  • 2
    • 0028926356 scopus 로고
    • Clinical and biochemical analysis of two families with type I and type II mannosidosis
    • BENNET JK, DEMBURE PP, ELSAS LJ. (1995). Clinical and biochemical analysis of two families with type I and type II mannosidosis. Am J Med Gen, 55: 21-26.
    • (1995) Am J Med Gen , vol.55 , pp. 21-26
    • BENNET, J.K.1    DEMBURE, P.P.2    ELSAS, L.J.3
  • 4
    • 0032231667 scopus 로고    scopus 로고
    • Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis
    • GOTODA Y, WAKAMATSU N, KAWAI H, NISHIDA Y, MATSUMOTO T. (1998). Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis. Am J Hum Genet, 63: 1015-1024.
    • (1998) Am J Hum Genet , vol.63 , pp. 1015-1024
    • GOTODA, Y.1    WAKAMATSU, N.2    KAWAI, H.3    NISHIDA, Y.4    MATSUMOTO, T.5
  • 6
    • 0019806901 scopus 로고
    • Mannosidosis. A comparative review of biochemical and related clinicopathological aspects of three forms of the disease
    • JOLLY RD, WINCHESTER B, GEHLER J, DORLING J, DAWSON G. (1981). Mannosidosis. A comparative review of biochemical and related clinicopathological aspects of three forms of the disease. J Apll Biochem, 3: 273-291.
    • (1981) J Apll Biochem , vol.3 , pp. 273-291
    • JOLLY, R.D.1    WINCHESTER, B.2    GEHLER, J.3    DORLING, J.4    DAWSON, G.5
  • 10
    • 0028303732 scopus 로고
    • Human lysosomal alpha-mannosidase: Isolation and nucleotide sequence of the full lenght cDNA
    • NEBES VL, SCHMIDT MC. (1994). Human lysosomal alpha-mannosidase: isolation and nucleotide sequence of the full lenght cDNA. Biochem Bhophys Res Commun, 200: 239-245.
    • (1994) Biochem Bhophys Res Commun , vol.200 , pp. 239-245
    • NEBES, V.L.1    SCHMIDT, M.C.2
  • 11
    • 0030940335 scopus 로고    scopus 로고
    • Alpha-Mannosidosis: Functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings
    • NILSSEN O, BERG T, RIISE HM et al. (1997). Alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings. Hum Molec Gen, 6: 717-726.
    • (1997) Hum Molec Gen , vol.6 , pp. 717-726
    • NILSSEN, O.1    BERG, T.2    RIISE, H.M.3
  • 12
    • 0014578123 scopus 로고
    • Mannosidosis
    • OCKERMAN PA. (1969). Mannosidosis. J Pediatr, 75: 360-365.
    • (1969) J Pediatr , vol.75 , pp. 360-365
    • OCKERMAN, P.A.1
  • 13
    • 0015936961 scopus 로고
    • Diagnosis of mannosidosis
    • OCKERMAN PA. (1973). Diagnosis of mannosidosis. Lancet, 1: 207-208.
    • (1973) Lancet , vol.1 , pp. 207-208
    • OCKERMAN, P.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.