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Консультант врача. Электронная медицинская библиотека

Консультант врача

Электронная медицинская библиотека

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Список литературы

  1. Bernstein DL, Hulkova H, Bialer MG, Desnick RJ. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol 2013;58:1230—43.
  2. Fouchier SW, Defesche JC. Lysosomal acid lipase A and the hypercholesterolaemic phenotype. Curr Opin Lipidol 2013;24:332—8.
  3. Hulkova H, Elleder M. Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens. Histopathology 2012;60:1107e13.
  4. Grabowski GA, Charnas L, Du H. Lysosomal acid lipase deficiencies: the Wolman disease/cholesteryl ester storage disease spectrum. In: Scriver Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A,editors. Metabolic and molecular bases of inherited disease – OMMBID. New York: McGraw-Hill; 2012
  5. Hamilton J, Jones I, Srivastava R, Galloway P. A new method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2. Clin Chim Acta 2012;413:1207e10.
  6. Quinn AG, Burton B, Deegan P, Di Rocco M, Enns GM, Guardamagna O, et al. Sustained elevations in LDL cholesterol and serum transaminases from early childhood are common in lysosomal acid lipase deficiency. Mol Genet Metab 2014;111:S89
  7. Ambler GK, Hoare M, Brais R, Shaw A, Butler A, Flynn P, et al. Orthotopic liver transplantation in an adult with cholesterol ester storage disease. JIMD Rep 2013;8:41-6.
  8. Abello F, Guardamagna O, Baracco V, Bonardi R. The treatment of colesteryl storage disease (CESD) by ezetimibe monotherapy. Atheroscler Suppl 2010;11:28.
  9. Xu M, Liu K, Swaroop M, Porter FD, Sidhu R, Firnkes S, et al. 5-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders. J Biol Chem 2012;287:39349-60
  10. Barton BK, Balwani M, Feillet F. A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency. N Engl J Med. 2015; 373 (11): 1010-1020.

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