5 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... delayed puberty -> Infertility ... pathophysiology #peds ... #pediatrics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
complex storage diseases ... MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis ... #Algorithm #Differential ... #Neonatology #Peds
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
Evaluation of suspected incomplete Kawasaki Disease

1. AHA consensus recommendations
2. Infants ≤6 months old on day ≥7
incomplete Kawasaki Disease ... and lab signs ( ... #Diagnosis #Peds ... #Pediatrics #Kawasaki ... #Algorithm
Clinical features of Liver Disease in Children

#Cirrhosis #LiverFailure #Signs #Symptoms #PhysicalExam #Findings #Diagnosis #Peds #Pediatrics #Hepatology

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Clinical features ... of Liver Disease ... #LiverFailure #Signs ... PhysicalExam #Findings #Diagnosis ... #Peds #Pediatrics