High‐performance liquid chromatography‐based assay optimization for the detection of plasma amino acids for applications in metabolic disorders in developing …
Plasma amino acids are generally analyzed through ion exchange chromatography, a
reproducible but time‐consuming method. Here, we report the optimization of a reverse …
reproducible but time‐consuming method. Here, we report the optimization of a reverse …
Label free quantitative proteomic profiling of serum samples of intellectually disabled young patients revealed dysregulation of complement coagulation and …
Intellectual disability is a heterogeneous disorder, diagnosed using intelligence quotient (IQ)
score criteria. Currently, no specific clinical test is available to diagnose the disease and its …
score criteria. Currently, no specific clinical test is available to diagnose the disease and its …
[HTML][HTML] Initiating Newborn Screening for Metabolic Disorders in Pakistan: A Qualitative Study of the Early Challenges and Opportunities
In multiple countries, newborn screening (NBS) initiatives have provided prevalence insights
for inborn errors of metabolism (IEM), but Pakistan lacks such data. Few reports exist on IEM …
for inborn errors of metabolism (IEM), but Pakistan lacks such data. Few reports exist on IEM …