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diagnosis causes iem inbornerrors metabolism neonatology nicu syndrome table 21hydroxylasedeficiency 21ohd acute cough developmentaldelay endocrinology fever laboratory 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 Acute Pediatric Cough - Differential Diagnosis Algorithm No Fever, No Tachypnea - Normal Chest Auscultation
Causes of Acute Pediatric ... Cough - Differential ... Diagnosis Algorithm ... Bronchitis - No URTI Symptoms ... #Causes #Peds #
Causes of Developmental Delay - Differential Diagnosis Algorithm Isolated Domain Delay - Reduced Respiratory Drive: • Cognitive
Developmental Delay - Differential ... Diagnosis Algorithm ... Syndromic • Genetic ... #Causes #Peds # ... Pediatrics
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
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
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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