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iem inbornerrors metabolism neonatology table 21hydroxylasedeficiency 21ohd algorithm cirrhosis differential endocrinology findings hepatology laboratory liverfailure metabolicemergency patterns praderwilli signs syndrome
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... #Neonatology #Peds ... #IEM #NICU #InbornErrors
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
additions, for diagnosing ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... Incr Skeletal fractures ... 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 ... Hyperkalemia, Hypoglycemia ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Clinical features of Liver Disease in Children #Cirrhosis #LiverFailure #Signs #Symptoms #PhysicalExam #Findings #Diagnosis #Peds #Pediatrics #Hepatology **
Clinical features ... LiverFailure #Signs #Symptoms ... #PhysicalExam # ... Findings #Diagnosis ... #Peds #Pediatrics
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