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Variability in the presentation of defects across the spectrum of PBDs reflects the central role of peroxisome metabolism in human development.
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For this reason a statistical approach for presentation of defect density was used.
The iPSC descendents without presentation of the defects during differentiation are not immunogenic.
Similarly, there is significant variety in the presentation of retinal defects also in patients suffering from distinct CLN forms [ 29].
This is probably due to the very visible presentation of these defects and, therefore, probably a parameter for less obvious malformations as well.
The presentation of metabolic defects in parallel with ALS-causing gene mutations point to the possible existence of a genetic predisposition to metabolic abnormalities in ALS and suggest a potential integral role for metabolic factors in regulating the progression and development of ALS.
The varied presentation of lamellar macular defects presented in the study shows the wide clinical spectrum of macular disorders that may simulate a macular hole on clinical examination.
A further clinical presentation of a FARS2 defect.
The purpose of this paper was to present the varied presentations of lamellar macular defects and describe features characterised by OCT that may be correlated to visual prognosis and the need for surgical intervention.
Further study is needed to determine if the small synaptic defects we observe in Dysferlin mutant mice represents an atypical presentation of synaptic dysfunction, whether these defects are present only in a subset of muscle groups, and how relevant synaptic dysfunction may be to disease pathogenesis in humans.
In this study, we found the most common defects in presentation of results were using arbitrary p thresholds instead of reporting the precise p values and reporting a p value without showing the test statistics.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com