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diagnosis iem metabolism neonatology nicu 21hydroxylasedeficiency 21ohd algorithm endocrinology laboratory metabolicemergency patterns
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... Diagnosis #Algorithm #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 ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
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 ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
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