Mayo Clinic physicians, genetic counselors, and allied health staff are in San Diego this week for the WORLDSymposia, which presents the latest information from basic science, translational research, and clinical trials for lysosomal diseases.
If you're attending, be sure to visit us in the exhibit hall to discuss:
- NEWBORN SCREENING AND COMPREHENSIVE FOLLOW-UP TESTING: Screening for seven disorders with a featured algorithm for Krabbe, Pompe, and MPS-I
- ENZYME ASSAYS: Traditional enzyme activity testing
- BIOMARKER TESTING: Novel testing used as a proxy for or adjunct to enzymatic analysis
- MOLECULAR TESTING: Full gene sequencing and mutation analysis
- FABRY DISEASE: AGABS, AGA, AGAS, CTSA, FABRZ
- GAUCHER DISEASE: BGL, GAUP, GBAZ, GPSY
- KRABBE DISEASE: PSY, CBGC, CBGT, KRABZ
- MUCOPOLYSACCHARIDOSIS I (MPS-I): MPSQN, MPSSC
- NIEMANN-PICK A/B DISEASE: OXYBS, NPABP, NPABZ
- NIEMANN-PICK C DISEASE: OXYBS, OXNP, NIEM, NPCZ
- PEROXISOMAL AND LYSOSOMAL STORAGE DISEASE PANEL: PLSD
- POMPE DISEASE: GAABS, GAAZ
- X-LINKED ADRENOLEUKODYSTROPHY (X-ALD): POX, POXP, XALDZ
RECENT LYSOSOMAL STORAGE DISORDER PUBLICATIONS
- Matern, D., Turgeon, C., et al. (2015). Measurement of psychosine in dried blood spots — a possible improvement to newborn screening programs for Krabbe disease. J Inherit Metab Dis, 923-929.
- Tortorelli, S., Matern, D., et al. (2015). Newborn screening for lysosomal storage disorders. Seminars in Perinatology, 206-216.