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Knowledge from behavioural, serological and molecular testing data will help to focus prevention strategies.
MA performed molecular testing, data collection and participated in results analysis and manuscript writing.
MJ performed the molecular testing, data analyses and drafted the manuscript.
Without molecular testing data, I would like to see a table demonstrating the current case presenting prenatal clinical features consistent with what has been documented in the literature by studying a larger cohort of probands.
This is in part because most BioMarin studies did not collect molecular testing data as part of uniform enrollment criteria and also because the scope of this update is to report only on published Morquio A mutations.
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AM conceived the study, carried out the molecular testing, analyzed the data, and drafted the manuscript.
Histological assessment was performed without knowledge of the molecular testing results and clinical data.
Brossette SE et al. [ 16] reported a successful hospital-wide prospective system with good accuracy in 2006, which combined clinical microbiology (including serological and molecular testing) and patient status data; the sensitivity was 0.86 and specificity was 0.98.
All participants to the study provided informed written consent for molecular testing and publication of the data.
FSJ, VVR, JRL and GSL participated in the study design, molecular tests, in the data analysis and in drafting and discussing the manuscript.
Statistical analysis of the data was performed with the chi-square test to compare the diagnostic ability of cytological and molecular testing.
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