Author:
Whitfield P. D.,Calvin J.,Hogg S.,O’Driscoll E.,Halsall D.,Burling K.,Maguire G.,Wright N.,Cox T. M.,Meikle P. J.,Deegan P. B.
Subject
Genetics (clinical),Genetics
Reference22 articles.
1. Bligh EG, Dyer WJ (1959) A rapid method of total lipid extraction and purification. Can J Biochem Physiol 37: 911–917.
2. Boscaro F, Pieraccini G, la Marca G, et al (2002) Rapid quantitation of globotriaosylceramide in human plasma and urine: a potential application for monitoring enzyme replacement therapy in Anderson-Fabry disease. Rapid Commun Mass Spectrom 16: 1507–1514.
3. Chaterjee S, Gupta P, Pyeritz RE, Kwiterovich PO (1984) Immunohistochemical localisation of glycosphingolipid in urinary renal tubular cells in Fabry’s disease. Am J Clin Pathol 82: 24–28.
4. Davies JP, Eng CM, Hill JA, et al (1996) Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries. Eur J Hum Genet 4: 219–224.
5. Desnick RJ, Ioannou YA, Eng CM. (2001) α-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds; The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 3733–3774.
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