4 results
diagnosis hepatology peds primary 21hydroxylasedeficiency 21ohd cirrhosis endocrinology management pbc praderwilli psc sclerosing summary syndrome workup
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... > Neonatal and infantile ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Primary Biliary Cirrhosis (PBC) - Summary PBC Epidemiology: • Female:Male 9:1 • Common European descent • Age:
Primary Biliary ... 65 years PBC Pathophysiology ... cholestasis → Cirrhosis/Liver ... PBC Signs and Symptoms ... or higher • Liver
The 6 C’s of Primary Sclerosing Cholangitis (PSC) PSC is a chronic, cholestatic, immune-mediated disease characterized by
to multi-focal biliary ... - Genetic and environmental ... colorectal and hepato-biliary ... Care focuses on symptom ... remain subject to clinical
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
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