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The treatments described above are all aimed at managing the downstream consequences of defective CFTR function and improving symptoms rather than tackling the underlying defect.
Its underlying defect is the deficient production of adult hemoglobin (hemoglobin A).
Because the underlying defect of the lower esophageal sphincter (LES) was not repaired, surgery failed to control symptoms, and the procedure was not widely embraced.
Guided by mechanistic understanding of the underlying defect, it might be possible to correct this by using small molecules that weaken or strengthen dynein.
Despite prolonging survival and improving quality of life, these approaches fell short of the ultimate goal to remedy the underlying defect of the disease.
Block maximum sampling scenarios with two different underlying defect size distributions (Weibull and log-normal) were simulated.
All the physicians and scientists I talked to who are working on the experimental agents emphasized the many unknown variables, but for the first time there is convincing evidence that the underlying defect in cystic fibrosis can be corrected.
"They provide scientific evidence that support our long-standing belief that targeting the underlying defect of C.F. may have a profound effect on the disease".
Lack of knowledge about underlying defect inflow distribution also leads to difficulty in applying Bayesian based inference methods for software defect prediction.
In 15%-20% of children with severe combined immunodeficiency (SCID), the underlying defect is adenosine deaminase (ADA) deficiency.
In 15-20% of children with severe combined immunodeficiency (SCID), the underlying defect is adenosine deaminase (ADA) deficiency.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com