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diagnosis pediatrics management syndrome table algorithm causes endocrinology hepatology hyperammonemia inbornerrors neonatology nicu obgyn 21hydroxylasedeficiency 21ohd aciduria acromegaly aflp agammaglobulinemia
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
See IEM schema for ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics ... #IEM #Laboratory
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... #Pathophysiology ... Diagnosis #Algorithm #Differential ... #Neonatology #Peds ... Pediatrics #Table #IEM
Simplified Diagnosis of Metabolic Disorders #Diagnosis #Peds #Pediatrics #Inherited #Congenital #Metabolism #Metabolic #Diseases #Disorders #Ketones #Ammonia #Differential
Simplified Diagnosis of Metabolic ... Disorders #Diagnosis #Peds ... #Metabolic #Diseases ... Disorders #Ketones #Ammonia ... #Differential #
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
major sources of ammonia ... and decreased metabolism ... Reye syndrome (Peds ... #Pathophysiology ... Hyperammonemia #Differential
Non-cirrhotic Hyperammonemia - Differential Diagnosis Framework Hematologic & Vascular: • Multiple myeloma & Acute leukemia (plasma cells
Hyperammonemia - Differential ... Y t amino acid metabolism ... Hyperammonemia #ammonia ... #Differential # ... Diagnosis #Pathophysiology
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
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
Acute Fatty Liver of Pregnancy (AFLP) Pathophysiology: • Defect in fetal free fatty acid metabolism products →
Pregnancy (AFLP) Pathophysiology ... free fatty acid metabolism ... Intermediate fatty acid metabolism ... postpartum): • Initial symptoms ... infiltration) Differential
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
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings The epidemiology of this disease is 1/340,000 births and roughly double
Genetic Predisposition ... immunity Signs/Symptoms ... IgA, IgG, and IgM ... Agammaglobulinemia #XLinked #pathophysiology
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