5 results
Lab patterns seen in Inborn Errors of Metabolism

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

Amniocentesis 
 - Chromosome/micro-array and DNA analysis 
 -
transfusion Chorionic villus ... inborn error of metabolism ... Preimplantation genetic ... Non-invasive genetic ... #Laboratory #Obstetrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
disorders (MNCD): Diagnosis ... deficiency, ... laboratory ... hyperorality, - 25% genetic ... Differential #Subtypes #Classification ... #Geriatrics #Workup
Causes of Lactate Elevation, Lactic Acidosis - Differential Diagnosis

The most common causes of hyperlactatemia are usually:
impairment of cellular metabolism ... sweat) - its metabolism ... to bolus these values ... - assess other laboratory ... #typea #typeb #classification