60 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Metabolism A table ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis #Algorithm ... #Neonatology #Peds ... #Pediatrics #Table
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 #
Causes of Unprovoked Pediatric Seizures -  Epilepsy Syndromes - Differential Diagnosis Algorithm 
Infantile:
 • Benign
Seizures - Epilepsy Syndromes ... Differential Diagnosis Algorithm ... • Dravet Syndrome ... Differential #Diagnosis #Algorithm ... #Causes #Peds #
Algorithm for the management of children with nephrotic syndrome and steroid resistant nephrotic syndrome (SRNS)

#nephrotic #syndrome
Algorithm for the ... with nephrotic syndrome ... #nephrotic #syndrome ... #SRNS #algorithm ... resistant #nephrology #peds
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
Differential Diagnosis Algorithm ... Triglycerides - Genetic ... • Nephrotic Syndrome ... • Nephrotic Syndrome ... Differential #Diagnosis #Algorithm
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Associated Genetic ... Syndromes • “Pink ... management #cardiology #peds
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... #PraderWilli #Syndrome ... #genetics #pathophysiology ... #peds #pediatrics
Ashkenazi Jewish Genetic Screening Algorithm
 • Bloom syndrome
 • Canavan disease
 • Familial dysautonomia
 • Fanconi
Ashkenazi Jewish Genetic ... Screening Algorithm ... • Bloom syndrome ... Ashkenazi #Jewish #Genetic ... #Screening #Algorithm
Hypokalemia Differential Diagnosis Algorithm

Low intake 
• poor oral intake 

Renal loss 
• Medication 
• Hypomagnesemia 
•
Differential Diagnosis Algorithm ... • Gitelman's syndrome ... • Bartter's syndrome ... Hypokalemic periodic paralysis ... Differential #Diagnosis #Algorithm