5 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Metabolism A table ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... MetabolicEmergency #Genetics ... #Neonatology #Peds ... #Pediatrics #Table ... #IEM #NICU #InbornErrors
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Aortoenteric Fistula - Diagnosis and Management Summary
Epidemiology:
• Uncommon but life-threatening
• Most common site of bowel connection
the duodenum Clinical ... Signs/Symptoms: ... Pathophysiology: ... the OR • HD stable ... about 50% • Stable
Peripartum Cardiomyopathy - Summary
1. Definition
 • Towards the end of pregnancy to 5 months postpartum
exclude other causes ... Differential Diagnosis ... Genetic predisposition ... Clinical • Under-recognized ... during Delivery • Stable