메뉴 건너뛰기




Volumn 36, Issue 8, 2012, Pages 1234-1246

Liver and skin histopathology in adults with acid sphingomyelinase deficiency (niemann-pick disease type B)

Author keywords

acid sphingomyelinase deficiency; hepatosplenomegaly; lysosomal storage disease; Niemann Pick disease; sphingomyelin

Indexed keywords

RECOMBINANT PROTEIN; SPHINGOMYELIN PHOSPHODIESTERASE;

EID: 84863845235     PISSN: 01475185     EISSN: 15320979     Source Type: Journal    
DOI: 10.1097/PAS.0b013e31825793ff     Document Type: Article
Times cited : (54)

References (21)
  • 1
    • 70449185285 scopus 로고
    • Niemann-Pick disease: A review of eighteen patients
    • Crocker AC, Farber S. Niemann-Pick disease: a review of eighteen patients. Medicine. 1958;37:1-95.
    • (1958) Medicine , vol.37 , pp. 1-95
    • Crocker, A.C.1    Farber, S.2
  • 2
    • 0029012443 scopus 로고
    • Acid sphingomyelinase deficient mice: A model of types A and B Niemann-Pick disease
    • Horinouchi K, Erlich S, Perl DP, et al. Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. Nat Genet. 1995;10:288-293.
    • (1995) Nat Genet , vol.10 , pp. 288-293
    • Horinouchi, K.1    Erlich, S.2    Perl, D.P.3
  • 3
    • 0025778878 scopus 로고
    • Fatal liver failure in two children with Niemann-Pick disease type B
    • Labrune P, Bedossa P, Huguet P, et al. Fatal liver failure in two children with Niemann-Pick disease type B. J Pediatr Gastroenterol Nutr. 1991;13:104-109.
    • (1991) J Pediatr Gastroenterol Nutr , vol.13 , pp. 104-109
    • Labrune, P.1    Bedossa, P.2    Huguet, P.3
  • 6
    • 49849099179 scopus 로고    scopus 로고
    • A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type b
    • McGovern MM, Wasserstein MP, Giugliani R, et al. A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type b. Pediatrics. 2008;122:e341-e349.
    • (2008) Pediatrics , vol.122
    • McGovern, M.M.1    Wasserstein, M.P.2    Giugliani, R.3
  • 8
    • 0026727943 scopus 로고
    • Liver failure and the sea-blue histiocyte/adult Niemann-Pick disease
    • Putterman C, Zelingher J, Shouval D. Liver failure and the sea-blue histiocyte/adult Niemann-Pick disease. J Clin Gastroenterol. 1992;15:146-149.
    • (1992) J Clin Gastroenterol , vol.15 , pp. 146-149
    • Putterman, C.1    Zelingher, J.2    Shouval, D.3
  • 9
    • 0001745899 scopus 로고    scopus 로고
    • Niemann-Pick disease types A and B: Acid sphingomyelinase deficiencies
    • Scriver CR, Beaudet AL, Sly WS, et al, eds 8th Ed. New York, NY: McGraw-Hill
    • Schuchman EH, Desnik RJ. Niemann-Pick disease types A and B: acid sphingomyelinase deficiencies. In: Scriver CR, Beaudet AL, Sly WS, et al, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001:3589-3610.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3589-3610
    • Schuchman, E.H.1    Desnik, R.J.2
  • 11
    • 0036914191 scopus 로고    scopus 로고
    • The demographics and distribution of type B Niemann-Pick disease: Novel mutations lead to new genotype/phenotype correlations
    • DOI 10.1086/345074
    • Simonaro CM, Desnick RJ, McGovern MM, et al. The demographics and distribution of type B Niemann-Pick disease; novel mutations lead to new genotype/phenotype correlations. Am J Human Genet. 2002;71:1413-1419. (Pubitemid 36015894)
    • (2002) American Journal of Human Genetics , vol.71 , Issue.6 , pp. 1413-1419
    • Simonaro, C.M.1    Desnick, R.J.2    McGovern, M.M.3    Wasserstein, M.P.4    Schuchman, E.H.5
  • 13
    • 0026057831 scopus 로고
    • Cirrhosis and portal hypertension in a patient with adult Niemann-Pick disease
    • Tassoni JP, Fawaz KA, Johnston DE. Cirrhosis and portal hypertension in a patient with adult Niemann-Pick disease. Gastroenterology. 1991;100:567-569.
    • (1991) Gastroenterology , vol.100 , pp. 567-569
    • Tassoni, J.P.1    Fawaz, K.A.2    Johnston, D.E.3
  • 15
    • 66349092222 scopus 로고    scopus 로고
    • Cardiac microvascular pathology in Fabry disease: Evaluation of endomyocardial biopsies before and after enzyme replacement therapy
    • Thurberg BL, Fallon JT, Mitchell R, et al. Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapy. Circulation. 2009; 118:2561-2567.
    • (2009) Circulation , vol.118 , pp. 2561-2567
    • Thurberg, B.L.1    Fallon, J.T.2    Mitchell, R.3
  • 18
    • 0022342207 scopus 로고
    • Niemann-Pick disease type B: First-trimester prenatal diagnosis on chorionic villi and biochemical study of a foetus at 12 weeks of development
    • Vanier MT, Boue J, Dumez Y. Niemann-Pick disease type B: first-trimester prenatal diagnosis on chorionic villi and biochemical study of a foetus at 12 weeks of development. Clin Genet. 1985;28:348-354. (Pubitemid 16223169)
    • (1985) Clinical Genetics , vol.28 , Issue.4 , pp. 348-354
    • Vanier, M.T.1    Boue, J.2    Dumez, Y.3
  • 19
    • 0025368184 scopus 로고
    • Very low levels of high density lipoprotein cholesterol in four sibs of a family with nonneuropathic Niemann-Pick disease and sea blue histiocytosis
    • Viana MB, Giugliani R, Leite VH, et al. Very low levels of high density lipoprotein cholesterol in four sibs of a family with nonneuropathic Niemann-Pick disease and sea blue histiocytosis. J Med Genet. 1990;27:499-504.
    • (1990) J Med Genet , vol.27 , pp. 499-504
    • Viana, M.B.1    Giugliani, R.2    Leite, V.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.