Female Fabry disease remains difficult to predict. Can combining α-galactosidase A activity, lysoGb3 and X-chromosome inactivation improve phenotype classification? This study suggests a tri-parametric approach may provide a clearer picture. #FabryDisease #RareDisease #LSD
doi.org/10.1002/jimd...

東北大学、日本人6万9千人ゲノム解析でファブリー病関連遺伝子の保有頻度を報告
jpnmedical.com/research/705/ #GLA病的バリアント頻度 #lysoGb3高値女性

Lyso-Gb3 levels were elevated earlier than clinical symptoms in infants with LO FD, increased significantly in the first 2 years of life, and remained stable during follow-up. bit.ly/4ufQL18 #GIMO #Globotriaosylsphingosine #LysoGb3 #FabryDisease #LaterOnsetVariants