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Neuroradiology
Volumn 41, Issue 3, 1999, Pages 182-184
MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency
Author keywords

Acid sphingomyelinase deficiency; Atrophy cerebellar; Magnetic resonance imaging; Niemann Pick disease type A
Indexed keywords

SPHINGOMYELIN PHOSPHODIESTERASE;
EID: 0033022524     PISSN: 00283940     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002340050729     Document Type: Article
Times cited : (7)
References (7)
  • 1
    • 70449185285 scopus 로고
    • Niemann-Pick disease: A review of eighteen patients
    • Crocker AC, Farber S (1958) Niemann-Pick disease: a review of eighteen patients. Medicine 37: 1-96
    • (1958) Medicine , vol.37 , pp. 1-96
    • Crocker, A.C.1    Farber, S.2
  • 2
    • 0015366181 scopus 로고
    • Niemann-Pick disease (Crocker's group A). Late onset and pigmentary degeneration resembling Hallervorden-Spatz syndrom
    • Martin JJ, Philippart M, Hauwaert JV, Callahan JW, Deberdt R (1972) Niemann-Pick disease (Crocker's group A). Late onset and pigmentary degeneration resembling Hallervorden-Spatz syndrom. Arch Neurol 27: 45-51
    • (1972) Arch Neurol , vol.27 , pp. 45-51
    • Martin, J.J.1    Philippart, M.2    Hauwaert, J.V.3    Callahan, J.W.4    Deberdt, R.5
  • 3
    • 0020551079 scopus 로고
    • Niemann-Pick disease (variation in the sphingomyelinase deficiency group). Neurovisceral phenotype (A) with an abnormal protracted clinical course and variable expression of neurological symptomatology in three siblings
    • Elleder M, Čihula J (1983) Niemann-Pick disease (variation in the sphingomyelinase deficiency group). Neurovisceral phenotype (A) with an abnormal protracted clinical course and variable expression of neurological symptomatology in three siblings. Eur J Pediatr 140: 323-328
    • (1983) Eur J Pediatr , vol.140 , pp. 323-328
    • Elleder, M.1    Čihula, J.2
  • 4
    • 0024440501 scopus 로고
    • Niemann-Pick disease
    • Elleder M (1989) Niemann-Pick disease. Pathol Res Pract 185: 293-328
    • (1989) Pathol Res Pract , vol.185 , pp. 293-328
    • Elleder, M.1
  • 5
    • 0020678565 scopus 로고
    • Niemann-Pick disease. Report on a symposium
    • Elleder M, Jirásek A (1983) Niemann-Pick disease. Report on a symposium. Acta Univ Carol Med 29: 259-267
    • (1983) Acta Univ Carol Med , vol.29 , pp. 259-267
    • Elleder, M.1    Jirásek, A.2
  • 6
    • 0030743788 scopus 로고    scopus 로고
    • Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency
    • Pavlů H, Elleder M (1997) Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency. J Inher Metab Dis 20: 615-616
    • (1997) J Inher Metab Dis , vol.20 , pp. 615-616
    • Pavlů, H.1    Elleder, M.2

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.