Sentence examples for demonstration of deficient from inspiring English sources
Gaucher disease (GD) diagnosis relies on the demonstration of deficient β-d-glucosidase (GBA) activity in cellular homogenates.
Demonstration of deficient acid alpha-glucosidase (GAA) enzyme activity is diagnostic, and molecular testing is available for confirmation or clarification.
Traditionally, demonstration of deficient enzymatic activity has been considered the gold standard for diagnosis of this condition, however, it is now recognized that the high specificity of a diagnostic plasma acylcarnitine profile, or the demonstration of homozygosity for the common c.985A > G mutation, reduces the need to utilize an enzyme assay for confirmation in a clinical setting [ 1].
The demonstration of a deficient activity of α-galactosidase in plasma, leucocytes or whole blood is the reference laboratory method, which should be used to screen males for FD.
The demonstration of COX-deficient, SDH-positive muscle fibres is thought to have the best sensitivity and specificity for MM (19).
Demonstration of defective autophagy in MCOLN1-deficient neurons suggests a possible mechanism underlying neurodegeneration, whereby increased protein aggregation and organelle damage lead to autophagic stress and eventual neuronal death.
Homozygous FH emerged as a model for liver-directed gene therapy in the 1980s with the demonstration of metabolic correction in patients following liver transplantation and genetic correction of deficient hepatocytes ex vivo with retroviruses[9], [10].
LA is one of many US cities currently confronting the impact of deficient public transport.
Decades of deficient and fragmented enforcement at the Defense Department have done little to stop sales abuses.
Our state ranks seventh for most structurally deficient bridges and 27th based on percentage of deficient bridges to overall inventory according to a recent analysis.
Additional hints on the role of P2X7 receptors in neuropathic pain have been provided by the demonstration of reduced pain sensitivity in P2X7 receptor-deficient mice [ 61] and by the analgesic effects exerted by P2X7 receptor antagonists [ 62, 63].
