27 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... 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
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Algorithm for the management of children with nephrotic syndrome and steroid resistant nephrotic syndrome (SRNS)

#nephrotic #syndrome
Algorithm for the ... with nephrotic syndrome ... #SRNS #algorithm ... steroid #resistant #nephrology ... #peds #pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... cardiology #peds #pediatrics
Causes of Pediatric Constipation - Differential Diagnosis Algorithm
Dietary / Functional:
 • Insufficient Volume / Bulk
Neurologic:
 •
Causes of Pediatric ... Differential Diagnosis Algorithm ... Volume / Bulk Neurologic ... Guillain-Barré Syndrome ... #Causes #Peds #Pediatrics
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Differential Diagnosis Algorithm ... Developmental Delay: • Syndromic ... • Genetic Disorder ... Landau-Kleffner Syndrome ... #Causes #Peds #Pediatrics
Irritable Bowel Syndrome (IBS) - Pathophysiology, Diagnosis and Management Algorithm
Risk factors: Previous acute enteric infection, Female
(IBS) - Pathophysiology ... and Management Algorithm ... factors affecting symptom ... #Pathophysiology ... Diagnosis #Management #Algorithm
Hypocalcemia Workup - Differential Diagnosis Algorithm
 • Low Magnesium, High Magnesium - Functional Hypoparathyroidism
 • High
Differential Diagnosis Algorithm ... Hypoparathyroidism: Autoimmune, Genetic ... metastases, Hungry bone syndrome ... Differential #Diagnosis #Algorithm ... #nephrology #calcium
BEE Syndromes - Non-inflammatory Causes

Immune-mediated conditions affecting the Brain, Eye, and Ear

Visual or auditory symptoms in
BEE Syndromes - ... Visual or auditory symptoms ... conjunction with symptoms ... meningitis • Genetic ... #neurology #noninflammatory