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diagnosis inbornerrors metabolism neonatology nicu table 21hydroxylasedeficiency 21ohd algorithm anatomy cardiology circulation differential endocrinology fetal laboratory metabolicemergency patterns praderwilli syndrome
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
See IEM schema for ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #NICU #Genetics ... #IEM #Laboratory
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Neonatology #Peds ... #IEM #NICU #InbornErrors
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
sleep apnea, cor pulmonale ... 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
enzyme 21-OHase causes ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Fetal and Post Transition Circulation In the fetal circulatory system, oxygenated blood is delivered via the umbilical
oxygenated blood passes ... pulmonary vascular ... #Circulation #Pathophysiology ... Cardiology #Anatomy #Peds ... #Pediatrics
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