5 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... MetabolicEmergency #Genetics ... Diagnosis #Algorithm #Differential ... #Neonatology #Peds ... #IEM #NICU #InbornErrors
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Metabolism A table ... See IEM schema for ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #NICU #Genetics
Primary Biliary Cirrhosis (PBC) - Summary

PBC Epidemiology:
 • Female:Male 9:1
 • Common European descent
 • Age:
• Female:Male 9: ... 65 years PBC Pathophysiology ... PBC Signs and Symptoms ... bile ducts Differential ... diagnosis #workup #hepatology
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
immunodeficiency may appear 3-9 ... Genetic Predisposition ... immunity Signs/Symptoms ... IgA, IgG, and IgM ... Agammaglobulinemia #XLinked #pathophysiology
Aortoenteric Fistula - Diagnosis and Management Summary
Epidemiology:
• Uncommon but life-threatening
• Most common site of bowel connection
Clinical Signs/Symptoms ... • Should be on differential ... Pathophysiology: ... the OR • HD stable ... - CMC IM Residency