7 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
In Review, along ... See IEM schema for ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics ... #IEM #Laboratory
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
in Review, UpToDate ... #Pediatrics ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Table #IEM #NICU
How can we break down the differential diagnosis of bilious emesis in infants by age?

Image Source:
: A case based clinical ... review. ... pediatricsurgery; #generalsurgery ... ; #pediatrics; #
Suggested diagnostic algorithm for neonate with suspected esophageal atresia +/- tracheoesophageal fistula.

Image Source: De Virgilio, C.,
: A case based clinical ... review. ... pediatricsurgery; #generalsurgery ... ; #pediatrics; #
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... • Deletion of critical ... 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
Pathogenesis and Clinical ... #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
Pathogenesis and clinical ... Genetic Predisposition ... IgA, IgG, and IgM ... Agammaglobulinemia #XLinked #pathophysiology