4 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
A table of lab ... values compiled ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #NICU #Genetics ... #IEM #Laboratory
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
See the lab values ... table for supplemental ... MetabolicEmergency #Genetics ... Diagnosis #Algorithm #Differential ... Peds #Pediatrics #Table
Some of the techniques used for Antenatal Diagnosis

Amniocentesis 
 - Chromosome/micro-array and DNA analysis 
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Fetal infection — PCR ... transfusion Chorionic villus ... inborn error of metabolism ... Non-invasive genetic ... Testing #Diagnosis #Laboratory
Causes of Lactate Elevation, Lactic Acidosis - Differential Diagnosis

The most common causes of hyperlactatemia are usually:
Lactic Acidosis - Differential ... impairment of cellular metabolism ... sweat) - its metabolism ... to bolus these values ... - assess other laboratory