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diagnosis pediatrics genetics metabolism algorithm hyperammonemia iem inbornerrors neonatology nicu syndrome table 21hydroxylasedeficiency 21ohd congenital diseases disorders encephalopathy endocrinology inherited
Simplified Diagnosis of Metabolic Disorders #Diagnosis #Peds #Pediatrics #Inherited #Congenital #Metabolism #Metabolic #Diseases #Disorders #Ketones #Ammonia #Differential
Disorders #Diagnosis #Peds ... Disorders #Ketones #Ammonia ... #Differential #
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
major sources of ammonia ... production of ammonia ... Reye syndrome (Peds ... #Pathophysiology ... Hyperammonemia #Differential
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
delayed puberty -> Infertility ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
Non-cirrhotic Hyperammonemia - Differential Diagnosis Framework Hematologic & Vascular: • Multiple myeloma & Acute leukemia (plasma cells
Hyperammonemia - Differential ... Hyperammonemia #ammonia ... #Differential # ... Diagnosis #Pathophysiology
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... connections and pathophysiology ... 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
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Etiology: • Pathophysiology ... Reversible course Differential ... Seizures: Treat with AEDs
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