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diagnosis pediatrics iem inbornerrors metabolism neonatology table 21hydroxylasedeficiency 21ohd algorithm apml biliary cholangitis cirrhosis differentiation hematology laboratory management metabolicemergency oncology
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... MetabolicEmergency #Genetics ... Diagnosis #Algorithm #Differential ... #Neonatology #Peds ... Pediatrics #Table #IEM #NICU
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... Pediatrics #Table #NICU ... #Genetics #IEM
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Primary Biliary Cirrhosis (PBC) - Summary PBC Epidemiology: • Female:Male 9:1 • Common European descent • Age:
• Female:Male 9: ... 65 years PBC Pathophysiology ... PBC Signs and Symptoms ... bile ducts Differential ... diagnosis #workup #hepatology
Differentiation Syndrome in APML Epidemiology: • Incidence: common in APL (2-48% depending on the study) • Triggers:
ATRA treatment Pathophysiology ... Diagnosis: >3 symptoms ... initiation • Differential ... organ dysfuxtion, ICU ... diagnosis #management #hematology
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