8 research outputs found
P581: Comparison of GLA variant profile in newborn screening confirmatory testing and diagnostic testing for Fabry disease*
No full textThe pan-caspase inhibitor Q-VD-OPh has anti-leukemia effects and can interact with vitamin D analogs to increase HPK1 signaling in AML cells
No full textRNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limbâgirdle muscular dystrophy
No full textAbstract We see that a multiple methods approach to diagnosis remains necessary in the era of whole genome sequencing. We also observe that reproductive risk genetic counseling can be a motivating factor for further testing along the diagnostic odyssey
Dual role of hematopoietic progenitor kinase 1 (HPK1) as a positive regulator of 1α,25-dihydroxyvitamin D-induced differentiation and cell cycle arrest of AML cells and as a mediator of vitamin D resistance
No full textP695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease
No full textO39: The ClinGen Lysosomal Diseases Variant Curation Expert Panelâs guidance on classification of IDUA variants for mucopolysaccharidosis type I
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