5 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... See IEM schema for ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #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 ... #Diagnosis #Algorithm ... #Table #IEM #NICU
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
chromosome ->Loss ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
gestational diabetes algorithm
#Infant #Diabetic #Mother #Pediatrics #Neonatology #IDM #NICU #OBGYN #Diagnosis #Pathophysiology #Maternal #Complications #Peds #Newborn
gestational diabetes algorithm ... Diabetic #Mother #Pediatrics ... #Neonatology #IDM ... OBGYN #Diagnosis #Pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
feeding, weight loss ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics