Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.

Fernanda Sperb-LudwigFranciele Cabral PinheiroMalu Bettio SoaresTatiele NalinErlane Marques RibeiroCarlos Eduardo SteinerEugênia Ribeiro ValadaresGilda PortaCarolina Fishinger Moura de SouzaIda Vanessa Doederlein Schwartz

Published in: Molecular genetics & genomic medicine (2019)

The study presents the largest cohort ever analyzed in Brazilian patients with hepatic glycogenosis. We determined the clinical utility of NGS for diagnosis. The molecular diagnosis of hepatic GSDs enables the characterization of diseases with similar clinical symptoms, avoiding hepatic biopsy and having faster results.

Keyphrases

end stage renal disease
newly diagnosed
chronic kidney disease
prognostic factors
copy number
physical activity
patient reported
genome wide