4 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Pediatrics #Table ... #NICU #Genetics ... #IEM #Laboratory
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
of information: Pediatrics ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Neonatology #Peds ... #Pediatrics #Table
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Infertility • Decr Bone ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
paediatrician or geneticist ... Muscle tone is assessed ... Newborn #Infant #PhysicalExam ... #Examination #Peds ... #Pediatrics #Diagnosis