Characterization of Free Sialic Acid Storage Disorder Clinical Presentations
Back to course
Pdf Summary
Asset Subtitle
Presenting Author - Gabriella Grois, BS; Co-Author - Marla Sabaii, RN BSN; Co-Author - David R. Adams, MD, PhD; Co-Author - William A. Gahl, MD, Ph.D; Co-Author - Lynne Wolfe, MS, CRNP, BC;
Meta Tag
Brain/Nervous System
Delineation of Diseases
Genotype-Phenotype Correlations
Identification of Disease Genes
Intellectual disability
Lysosomal Diseases
Metabolic Disorder
Natural History
Phenotype
Phenotypic delineation of disorders
Co-Author Marla Sabaii, RN BSN
Co-Author David R. Adams, MD, PhD
Co-Author William A. Gahl, MD, Ph.D
Co-Author Lynne Wolfe, MS, CRNP, BC
Presenting Author Gabriella Grois, BS
Keywords
Free Sialic Acid Storage Disorder
FSASD
lysosomal storage disorder
SLC17A5 gene
sialin
urinary sialic acid excretion
biomarkers
neurodegeneration
cognitive impairment
genetic testing

© 2025 American College of Medical Genetics and Genomics. All rights reserved.

Powered By