The Clinical Utility of Plasma Lyso-Gb3 in the Diagnosis of Fabry Disease in Infants and Adults
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Presenting Author - Wenjiao Li, PhD; Co-Author - Brandon Stauffer, PhD; Co-Author - Hongjie Chen, PhD/FACMG; Co-Author - Jing Xiao, PhD; Co-Author - Yu Leng Phua, PhD, FACMG; Co-Author - Neal Cody, PhD; Co-Author - Lisa Edelmann, PhD, FACMG; Co-Author - Ruth Kornreich, PhD, FACMG; Co-Author - Robert J. Desnick, MD, PhD; Co-Author - Chunli Yu, MD;
Meta Tag
Biochemical genetics
Delineation of Diseases
Genetic Testing
Lysosomal Diseases
Metabolic Disorder
Co-Author Brandon Stauffer, PhD
Co-Author Hongjie Chen, PhD/FACMG
Co-Author Jing Xiao, PhD
Co-Author Yu Leng Phua, PhD, FACMG
Co-Author Neal Cody, PhD
Co-Author Lisa Edelmann, PhD, FACMG
Co-Author Ruth Kornreich, PhD, FACMG
Co-Author Robert J. Desnick, MD, PhD
Co-Author Chunli Yu, MD
Presenting Author Wenjiao Li, PhD
Keywords
clinical utility
plasma lyso-Gb3
diagnosis
Fabry disease
infants
adults
X-linked lysosomal storage disorder
GLA gene
enzyme diagnosis
molecular diagnosis

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