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 ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
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
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
Diagnosis and workup ... neuropsychological assessment ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential ... #Diagnosis #Geriatrics
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
paediatrician or geneticist ... always needs urgent assessment ... Newborn #Infant #PhysicalExam ... #Examination #Peds ... #Pediatrics #Diagnosis