3 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
complex storage diseases ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... #Neonatology #Peds
Diagnostic algorithm for a child or adolescent with suspected pulmonary hypertension. CHD, congenital heart disease; CPET,
Diagnostic algorithm ... #Diagnosis #Peds ... #Pediatrics #Pulmonary ... #Hypertension #Workup ... #Algorithm
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... sleep apnea, cor pulmonale ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics