7 results
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 #InbornErrors
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 ... #InbornErrors ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
Infographic depicting the main pearls of various types of congenital adrenal hyperplasia for the medical student.
#CAH #algorithm ... #causes #pediatrics ... treatment #Peds #Endocrinology ... #Adrenal #pathophysiology
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
fractures • Short ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Hypocalcemia - Differential Diagnosis Algorithm - Low and High PTH
LOW PTH - Hypoparathyroid
 - Congenital (Pediatric)
Differential Diagnosis Algorithm ... - Congenital (Pediatric ... Malabsorption • Short ... Differential #Diagnosis #Algorithm ... #PTH #endocrinology
Short Stature - Differential Diagnosis Algorithm
Normal Variant, Normal Puberty Onset (BA = CA)
 • Familial Short
Short Stature - ... Differential Diagnosis Algorithm ... Differential #Diagnosis #Algorithm ... #endocrinology ... #causes #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
#21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics