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diagnosis pediatrics iem inbornerrors metabolism neonatology nicu 21hydroxylasedeficiency 21ohd cardiology cardiomyopathy differential endocrinology fever laboratory management metabolicemergency peripartum pfapa syndrome
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
Lab patterns seen ... Metabolism A table ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... MetabolicEmergency #Genetics ... #Diagnosis #Algorithm ... #Neonatology #Peds ... #Pediatrics #Table
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
mutation in CYP21A2 coding ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Peripartum Cardiomyopathy - Summary 1. Definition • Towards the end of pregnancy to 5 months postpartum
Genetic predisposition ... Management during ... Management during ... Delivery • Stable ... teratogenic GDMT meds
PFAPA Syndrome - Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis EPIDEMIOLOGY: PFAPA is the most common syndrome entailing
fever (FMF) PATHOPHYSIOLOGY ... such symptoms during ... abdominal pain during ... neutropenia (CyN) This genetic ... dominant inheritance pattern
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