Frequency of carriers for rare metabolic diseases in a Brazilian cohort of 320 patients.

Caio Robledo D' Angioli Costa QuaioCaroline Monaco MoreiraChristine Hsiaoyun ChungSandro Felix PerazzioAurelio Pimenta DutraChong Ae Kim

Published in: Molecular biology reports (2022)

This study shows the potential research utility of exome sequencing to determine carrier status for rare metabolic diseases, which may be a possible strategy to evaluate the clinical and social burden of these conditions at the population level and guide the optimization of health policies and newborn screening programs.

Keyphrases

public health
end stage renal disease
healthcare
mental health
ejection fraction
chronic kidney disease
newly diagnosed
prognostic factors
human health
patient reported outcomes
risk assessment
health information
copy number
risk factors