2 results
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
also known as "congenital ... Signs/Symptoms/Complications ... #pathophysiology ... endocrinology #peds ... #pediatrics
Inherited forms of Hyperbilirubinemia
Major pathways involved in bilirubin production, conjugation, and excretion. Notes: Both the UB
Unconjugated Crigler-Najjar ... Hyperbilirubinemia #pathophysiology ... #congenital #hepatology ... #pediatrics #peds