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diagnosis peds 21hydroxylasedeficiency 21ohd endocrinology hematology hemophagocytic hepatology hlh lymphohistiocytosis praderwilli primary psc sarcoidosis sclerosing summary syndrome treatment
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... > Neonatal and infantile ... #pathophysiology ... #peds #pediatrics
The 6 C’s of Primary Sclerosing Cholangitis (PSC) PSC is a chronic, cholestatic, immune-mediated disease characterized by
- Genetic and environmental ... Care focuses on symptom ... disease management ... remain subject to clinical ... #diagnosis #management
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
Hemophagocytic Lymphohistiocytosis (HLH) Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... Diagnosis: HLH signs ... and symptoms can ... lymph node, or liver ... Lymphohistiocytosis #diagnosis #management
Sarcoidosis - Diagnosis and Management Summary Epidemiology 1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
Diagnosis and Management ... survival is 93-95% Pathophysiology ... renal failure Clinical ... heart (2-5%), liver ... #Signs #Symptoms
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