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peds diagnosis iem inbornerrors metabolism neonatology nicu table 21hydroxylasedeficiency 21ohd agammaglobulinemia differential endocrinology henochscholeinpurpura hsp iga immunology laboratory metabolicemergency nightmares
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... metabolism, excluding complex ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
of lab values compiled ... from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Pediatric Parasomnias and Nightmares: Pathogenesis and clinical findings Parasomnias - Micro-arousal episodes during SWS -> Intense activation of
Pediatric Parasomnias ... arousal but no complete ... Parasomnias #Nightmares #Pediatrics ... #Peds #pathophysiology ... #symptoms #pharmacology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings - Infectious Agents - 50% have
predisposition - Various genetic ... adhesion of IgA complexes ... Formation of immune complexes ... HenochScholeinPurpura #Pathophysiology ... Diagnosis #Signs #Symptoms
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings The epidemiology of this disease is 1/340,000 births and roughly double
Genetic Predisposition ... antibodies) -> Complete ... immunity Signs/Symptoms ... Agammaglobulinemia #XLinked #pathophysiology
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