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pathophysiology iem inbornerrors neonatology syndrome table 21hydroxylasedeficiency 21ohd algorithm encephalopathy endocrinology laboratory management metabolicemergency neurology patterns posterior praderwilli pres reversible
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
additions, for diagnosing ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
#Genetics #Pathophysiology ... #Diagnosis #Algorithm ... #Differential # ... Neonatology #Peds ... #IEM #NICU #InbornErrors
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Syndrome Signs/Symptoms ... delayed puberty -> Infertility ... pathophysiology #peds ... #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
brain PRES Clinical ... Neurological symptoms ... Reversible course Differential ... Drug toxicity, Metabolic ... Seizures: Treat with AEDs
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