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pediatrics diagnosis iem metabolism nicu table 21hydroxylasedeficiency 21ohd algorithm differential endocrinology laboratory metabolicemergency neonate patterns praderwilli rans rapid sonography syndrome
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... #Pathophysiology ... #Differential #Neonatology ... #Peds #Pediatrics ... Table #IEM #NICU #InbornErrors
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #InbornErrors ... #Metabolism #Neonatology ... #Peds #Pediatrics ... #Table #NICU #Genetics
Rapid Assessment of the Neonate With Sonography (RANS) Scan Recommended algorithm for RANS scan. * Abnormal vital
Abnormal vital signs ... #RANS #RAPID #POCUS ... Sonography #Neonate #Peds ... #Pediatrics #Neonatology
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... PraderWilli #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 ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
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