Article
The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era.
American journal of medical genetics. Part A - 1 Jul 2023
Gleason Adenrele M, D'Souza Andrea, Ryan Emory, Grochowsky Angela R, Carter Camille R, Goker-Alpan Ozlem, Lopez Grisel, Tayebi Nahid, Sidransky Ellen
Abstract excerpt
Gaucher disease (GD) is an autosomal recessive disorder resulting from glucocerebrosidase deficiency due to pathologic variants in GBA1. While clinically heterogeneous, GD encompasses three types, non-neuronopathic (GD1), acute neuronopathic (GD2), and chronic neuronopathic (GD3). Newborn screening (NBS), which has made remarkable inroads in detecting certain diseases before detrimental health consequences and...
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