3 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
additions, for diagnosing ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... InbornErrors #Metabolism #Neonatology ... #Peds #Pediatrics ... #Table #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis ... #Algorithm #Differential ... #Neonatology #Peds ... #Pediatrics #Table
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
deficiencies present in infants ... Signs/Symptoms/Complications ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics