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diagnosis differential pediatrics endocrinology symptoms syndrome algorithm causes complications iem inbornerrors management neonatology neurology nicu psychiatry table 21hydroxylasedeficiency 21ohd aciduria
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
Inborn Errors of Metabolism ... diagnosing acute metabolic ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #InbornErrors #Metabolism ... #Neonatology #Peds
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
inborn errors of metabolism ... presentations in acute metabolic ... #Pediatrics #Metabolism ... MetabolicEmergency #Genetics ... #Neonatology #Peds
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia Type I (FAMILIAL HYPERCHYLOMICRONEMIA) Type IIA
Metabolism of plasma ... lipoproteins and related genetic ... hypercholesterolemia #pathophysiology ... #metabolism #lipoproteins ... #genetics
PocketPEM - Inborn Errors of Metabolism #Diagnosis #Peds #EM #Genetics #Inborn #Errors #Metabolism #OTC #GAT1 #Aciduria
Inborn Errors of Metabolism ... #Diagnosis #Peds ... #EM #Genetics # ... Inborn #Errors #Metabolism
Refeeding Syndrome: Pathogenesis and clinical findings Patients at Risk of Refeeding Syndrome: - Little or no nutritional
• Incr Glucose Metabolism ... Syndrome - Metabolic ... Syndrome #diagnosis #pathophysiology ... #symptoms #signs
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Feedback Loop: Growth Hormone (GH) Growth Hormone: • Liver -> GHR activates JAK-STAT pathway -> Incr IGF1
activates lipolysis Signs ... thickness) - metabolic ... endocrinology #pathophysiology
Hypothyroid Myopathy Very common (up to 80% ) in patients with hypothyroidism Pathophysiology: • T4 deficiency leads to
hypothyroidism Pathophysiology ... mitochondrial oxidative metabolism ... Hypothyroid #Myopathy #pathophysiology ... #signs #symptoms
Upper Lobe Lung Diseases - STAR CHASERS Mnemonic S - Silicosis T - Tuberculosis A - Ankylosing Spondylitis R -
- STAR CHASERS Mnemonic ... upper lobes • Metabolic ... Abnormal perfusion kinetics ... pulmonary edema • Metabolic ... differential #diagnosis #mnemonic
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
and decreased metabolism ... Reye syndrome (Peds ... deficiency #Ammonia #Pathophysiology
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