Zobrazeno 1 - 2
of 2
pro vyhledávání: '"GLA, Glactosidase Alpha"'
Autor:
Hoda Safari Yazd, Sina Feizbakhsh Bazargani, Christine A. Vanbeek, Kelli King-Morris, Coy Heldermon, Mark S. Segal, Richard Yost, William L. Clapp, Timothy J. Garrett
Publikováno v:
Journal of Mass Spectrometry and Advances in the Clinical Lab, Vol 22, Iss, Pp 71-78 (2021)
Journal of Mass Spectrometry and Advances in the Clinical Lab
Journal of Mass Spectrometry and Advances in the Clinical Lab
Highlights • Fabry is an X-linked lysosomal storage disease with deficiency in α-galactosidase. • This deficiency results in the accumulation of glycosphinogolipids. • Diagnosis is often made by analysis of globotriaosylceramide in fluids and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc601d022917c183c0e3e9b796fc894b
https://doi.org/10.1016/j.jmsacl.2021.11.004
https://doi.org/10.1016/j.jmsacl.2021.11.004
Autor:
Yazd HS; Department of Chemistry, University of Florida, Gainesville, FL 32610, USA., Bazargani SF; Department of Chemistry, University of Florida, Gainesville, FL 32610, USA., Vanbeek CA; AmeriPath, Renal Pathology, Oklahoma City, OK 73114, USA., King-Morris K; Department of Medicine, University of Central Florida, Orlando, FL 32827, USA., Heldermon C; Department of Neurology, University of Florida, Gainesville, FL 32610, USA., Segal MS; Department of Medicine, Division of Nephrology, Hypertension & Renal Transplantation, University of Florida, Gainesville, FL 32610, USA., Clapp WL; Department of Pathology, Immunology and Laboratory Medicine, University of Florida, Gainesville, FL 32610, USA., Garrett TJ; Department of Pathology, Immunology and Laboratory Medicine, University of Florida, Gainesville, FL 32610, USA.
Publikováno v:
Journal of mass spectrometry and advances in the clinical lab [J Mass Spectrom Adv Clin Lab] 2021 Nov 26; Vol. 22, pp. 71-78. Date of Electronic Publication: 2021 Nov 26 (Print Publication: 2021).