6 results
diagnosis genetics pediatrics iem inbornerrors metabolism neonatology nicu syndrome table 21hydroxylasedeficiency 21ohd algorithm ammonia encephalopathy endocrinology hyperammonemia laboratory management metabolicemergency
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
delayed puberty -> Infertility ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
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
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
Reye syndrome (Peds ... deficiency #Ammonia #Pathophysiology ... Hyperammonemia #Differential
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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