New in JIMD Reports 📄
Can blood cells help diagnose and monitor FSASD?
This NIH-led study shows free sialic acid is 22–49x higher in leukocytes from patients with FSASD vs controls and other LSDs. A potential minimally invasive biomarker for diagnosis and trials.
doi.org/10.1002/jmd2...
#FSASD
Can blood cells help diagnose and monitor FSASD?
This NIH-led study shows free sialic acid is 22–49x higher in leukocytes from patients with FSASD vs controls and other LSDs. A potential minimally invasive biomarker for diagnosis and trials.
doi.org/10.1002/jmd2...
#FSASD
June 18, 2025 at 8:45 AM
New in JIMD Reports 📄
Can blood cells help diagnose and monitor FSASD?
This NIH-led study shows free sialic acid is 22–49x higher in leukocytes from patients with FSASD vs controls and other LSDs. A potential minimally invasive biomarker for diagnosis and trials.
doi.org/10.1002/jmd2...
#FSASD
Can blood cells help diagnose and monitor FSASD?
This NIH-led study shows free sialic acid is 22–49x higher in leukocytes from patients with FSASD vs controls and other LSDs. A potential minimally invasive biomarker for diagnosis and trials.
doi.org/10.1002/jmd2...
#FSASD
Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson's disease www.sciencedirect.com/science/arti...
Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson's disease
Large population-based studies of Parkinson's disease (PD) have identified susceptibility genes, including SLC17A5. Biallelic mutations in SLC17A5, en…
www.sciencedirect.com
March 27, 2025 at 12:53 PM
Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson's disease www.sciencedirect.com/science/arti...