Genomic and Biochemical Profile of Pseudodeficiency in Lysosomal Storage Disorders
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Co-Author - Xiangwen Chen-Deutsch, PhD; Presenting Author - Taraka Donti, PhD, FACMG; Co-Author - Zhili Lin, PhD; Co-Author - Christin D. Collins, PhD, FACMG; Co-Author - Madhuri Hedge, Ph.D, FACMG;
Meta Tag
Biochemical genetics
Genetic Testing
Metabolic Disorder
Co-Author Xiangwen Chen-Deutsch, PhD
Co-Author Zhili Lin, PhD
Co-Author Christin D. Collins, PhD, FACMG
Co-Author Madhuri Hedge, Ph.D, FACMG
Presenting Author Taraka Donti, PhD, FACMG
Keywords
pseudodeficiency
lysosomal storage disorders
enzyme activity
genetic sequencing
biomarker analysis
psychosine
GAGs
Lyso-GB3
detection rate
late-onset LSD-related conditions

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