94 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 ... #Differential # ... Neonatology #Peds
Role of G6PD in Protection against Oxidative Damage #Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
Damage #Pathophys #Peds ... #Genetics #Honc
Causes of Hypomagnesemia - Differential Diagnosis Algorithm
GI LOSS - FeMg < 2-2.5% or 24h Urine Mg
Hypomagnesemia - Differential ... Diagnosis Algorithm ... other EGFR ab • Genetics ... #Low #Causes #Differential ... #Diagnosis #Algorithm
Causes of Pelvic Organ Prolapse - Differential Diagnosis Algorithm
Herniation of one or more pelvic organs
Risk factors:
Organ Prolapse - Differential ... Diagnosis Algorithm ... Risk factors: genetics ... OrganProlapse #Differential ... #Diagnosis #Algorithm
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Developmental Delay - Differential ... Diagnosis Algorithm ... Syndromic • Genetic ... #Diagnosis #Algorithm ... #Causes #Peds #
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
PraderWilli #Syndrome #genetics ... pathophysiology #peds
Congenital Heart Disorders - Classification and Differential Algorithm

- Amy Chung, MD, MSc @AmyChung 

#Congenital #Heart #Disorders
Classification and Differential ... Algorithm - ... Classification #Differential ... #Algorithm #Diagnosis ... #Peds #Pediatrics
#Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
#Pathophys #Peds ... #Genetics #Honc
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
Lipid Profiles - Differential ... Diagnosis Algorithm ... Triglycerides - Genetic ... LipidProfiles #Differential ... #Diagnosis #Algorithm