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pathophysiology iem inbornerrors neonatology nicu table 21hydroxylasedeficiency 21ohd aciduria algorithm assessment compensated ddxof decompensated diagram differential endocrinology errors galactosemia gat1
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
inborn errors of metabolism ... #Genetics #Pathophysiology ... #Diagnosis #Algorithm ... #Neonatology #Peds ... #Pediatrics #Table
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... delayed puberty -> Infertility ... PraderWilli #Syndrome #genetics ... pathophysiology #peds ... #pediatrics
PocketPEM - Inborn Errors of Metabolism #Diagnosis #Peds #EM #Genetics #Inborn #Errors #Metabolism #OTC #GAT1 #Aciduria
Inborn Errors of Metabolism ... #Diagnosis #Peds ... #EM #Genetics # ... Inborn #Errors #Metabolism
Rapid Pediatric Assessment Diagram: * Assessment of Appearance - Tone: Moves spontaneously, resists examination -
Rapid Pediatric ... - Cyanosis #Diagnosis ... #EM #Peds #Rapid ... Venn #Diagram #Metabolic
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
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