3 results
genetics 21hydroxylasedeficiency 21ohd algorithm congenital endocrinology heartdisease management neonates praderwilli syndrome
Algorithm for the Evaluation and Management of Suspected Congenital Heart Disease in Neonates Neonates with undiagnosed congenital
Algorithm for the Evaluation ... with nonspecific symptoms ... HeartDisease #Algorithm #Evaluation ... #Neonatal #Peds ... #Pediatrics #Cardiology
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... Poor suckling -> Neonatal ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... vomiting • Late (shock ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds ... #pediatrics
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