Ontology highlight
ABSTRACT:
SUBMITTER: Malaga DR
PROVIDER: S-EPMC6687342 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Málaga Diana Rojas DR Brusius-Facchin Ana Carolina AC Siebert Marina M Pasqualim Gabriela G Saraiva-Pereira Maria Luiza ML Souza Carolina F M de CFM Schwartz Ida V D IVD Matte Ursula U Giugliani Roberto R
Genetics and molecular biology 20190411 1 suppl 1
Lysosomal storage disorders (LSDs) constitute a heterogeneous group of approximately 50 genetic disorders. LSDs diagnosis is challenging due to variability in phenotype penetrance, similar clinical manifestations, and a high allelic heterogeneity. A powerful tool for the diagnosis of the disease could reduce the "diagnostic odyssey" for affected families, leading to an appropriate genetic counseling and a better outcome for current therapies, since enzyme replacement therapies have been approved ...[more]