Novel approaches to an integrated route for trisomy 21 evaluation

A Buczyńska, I Sidorkiewicz, A Trochimiuk, S Ławicki… - Biomolecules, 2021 - mdpi.com
Trisomy 21 (T21) is one of the most commonly occurring genetic disorders, caused by the
partial or complete triplication of chromosome 21. Despite the significant progress in the …

Metabolomics: a pipeline for biomarker discovery in genetic diseases

LA Dahabiyeh, RM Nimer - Clinical Metabolomics Applications in Genetic …, 2023 - Springer
Genetic disorders (GD) affect hundreds of millions of lives worldwide, leading to specific
molecular perturbations in the metabolic profile within a certain biological matrix …

Screening and Predictive Biomarkers for Down Syndrome Through Amniotic Fluid Metabolomics

LC Zhang, XC Yang, YH Jiang, Z Yang… - Prenatal …, 2025 - Wiley Online Library
Background Down syndrome (DS) is a congenital disorder caused by the presence of an
extra copy of all or part of chromosome 21. It is characterized by significant intellectual …

[PDF][PDF] Novel Approaches to an Integrated Route for Trisomy 21 Evaluation. Biomolecules 2021, 11, 1328

A Buczyńska, I Sidorkiewicz, A Trochimiuk, S Ławicki… - 2021 - researchgate.net
Trisomy 21 (T21) is one of the most commonly occurring genetic disorders, caused by the
partial or complete triplication of chromosome 21. Despite the significant progress in the …