12 results
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
schema of the pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Neonatology #Peds ... Pediatrics #Table #IEM
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... management #cardiology #peds
Infant of a Diabetic Mother - complications - pathophysiology learning schema
Information source: UpToDate

#Infant #Diabetic #Mother #Pediatrics
complications - pathophysiology ... #Neonatology #IDM ... OBGYN #Diagnosis #Pathophysiology ... Complications #Peds
gestational diabetes algorithm
#Infant #Diabetic #Mother #Pediatrics #Neonatology #IDM #NICU #OBGYN #Diagnosis #Pathophysiology #Maternal #Complications #Peds #Newborn
#Neonatology #IDM ... OBGYN #Diagnosis #Pathophysiology ... Complications #Peds
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
pathway (GI = gastrointestinal ... Reye syndrome (Peds ... deficiency #Ammonia #Pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
#21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
predisposition - Various genetic ... vasculitis (100%) - Gastrointestinal ... HenochScholeinPurpura #Pathophysiology
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Genetic Predisposition ... IgA, IgG, and IgM ... Agammaglobulinemia #XLinked #pathophysiology