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diagnosis causes iem inbornerrors metabolism neonatology nicu table 21hydroxylasedeficiency 21ohd brue developmentaldelay endocrinology event fever laboratory lifethreatening metabolicemergency patterns pfapa
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... #Differential # ... Neonatology #Peds
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 ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
Causes of Developmental Delay - Differential Diagnosis Algorithm Isolated Domain Delay - Reduced Respiratory Drive: • Cognitive
Developmental Delay - Differential ... Diagnosis Algorithm ... • Genetic Disorder ... #Causes #Peds # ... Pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Causes of Apparent Life Threatening Event (ALTE) - Differential Diagnosis Algorithm Cardiac: • Congenital Heart Disease •
) - Differential ... Diagnosis Algorithm ... Metabolism • Reye's Syndrome ... #Causes #Peds # ... Pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... , vomiting • Late ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
PFAPA Syndrome - Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis EPIDEMIOLOGY: PFAPA is the most common syndrome entailing
fever (FMF) PATHOPHYSIOLOGY ... reporting such symptoms ... DIFFERENTIAL DIAGNOSIS ... both diseases are triggered ... neutropenia (CyN) This genetic
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