infertility pediatrics diagnosis pocus peds em symptoms genetics pathophysiology iem table syndrome

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Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and

Metabolism A table ... 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

MetabolicEmergency #Genetics ... #Diagnosis #Algorithm ... #Neonatology #Peds ... #Pediatrics #Table ... #IEM #NICU #InbornErrors

Prader-Willi Syndrome: Pathogenesis and clinical findings
• Maternal uniparental disomy: inheriting 2 copies of maternal chromosome

Prader-Willi Syndrome ... Signs/Symptoms ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics

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