The Calgary Guide to Understanding Disease @TheCalgaryGuide
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21hydroxylasedeficiency 21ohd endocrinology ophthalmology praderwilli retinopathy syndrome
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Signs/Symptoms/Complications ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Retinopathy of Prematurity: Pathogenesis and clinical findings Increased metabolic demand of growing eye -> Excessive VEGF production ->
Retinopathy of Prematurity ... -> Neovascular complications ... #Retinopathy #Prematurity ... #peds #pediatrics ... #pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
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