A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females
Ashlee R. Stiles, Haoyue Zhang, Jian Dai, Patricia McCaw, James Beasley, Catherine Rehder, Dwight D. Koeberl, Marie McDonald, Deeksha Bali, Sarah P. Young
Topics & Concepts
Fabry diseaseGlobotriaosylceramideBiomarkerInternal medicineSanger sequencingMedicineDiseaseAlpha-galactosidaseEnzyme replacement therapyGastroenterologyBiologyGeneDNA sequencingGeneticsLysosomal Storage Disorders ResearchTrypanosoma species research and implicationsGlycogen Storage Diseases and Myoclonus