HIGHLIGHTS
- who: Hermann Josef Mascher* from the Pharm-Analyt Labor GmbH, Austria have published the article: Att. to Kabuki Syndrome (ORPHA: 2322), in the Journal: (JOURNAL)
SUMMARY
Dear Editor of the International Journal of Rare Diseases and Disorders. My history track record with finding biomarkers in rare diseases is lyso- Gb1 for Gaucher, lyso-Gb3 for Fabry, lyso-SM509 for NPC and lyso-Sulfatide for MLD. After a careful literature check (only a few publications available) the NIH description led me to urine as a possible matrix for finding e_g diagnostic biomarkers. Although I . . .
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