37 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
seen in Inborn Errors ... additions, for diagnosing ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics ... Laboratory #Patterns #diagnosis
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
of the inborn errors ... MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis ... #Algorithm #Differential
Some of the techniques used for Antenatal Diagnosis

Amniocentesis 
 - Chromosome/micro-array and DNA analysis 
 -
for Antenatal Diagnosis ... analysis of inborn error ... Preimplantation genetic ... fertilisation allows genetic ... Non-invasive genetic
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
- Differential Diagnosis ... Algorithm Increased ... Triglycerides - Genetic ... #Differential #Diagnosis ... #Algorithm #Causes
Anisocoria algorithm - Solid arrows indicate recommended approaches to diagnosis. Dotted arrows indicate optional workup. 

#Anisocoria
Anisocoria algorithm ... - Solid arrows ... approaches to diagnosis ... #Anisocoria #algorithm ... ophthalmology #diagnosis
Amblyopia - Lazy Eye - Differential Diagnosis Algorithm
Deprivational - Obstruction of Visual Axis:
 • Ptosis
 •
- Differential Diagnosis ... Algorithm Deprivational ... Unequal Refractive Error ... #Differential #Diagnosis ... #Algorithm #Causes
Adrenal Insufficiency - Differential Diagnosis Workup Algorithm
Primary Adrenal Insufficiency:
 • Autoimmune primary adrenal insufficiency
 • Adrenoleukodystrophy,
- Differential Diagnosis ... Workup Algorithm ... Adrenoleukodystrophy, genetic ... #Differential #Diagnosis ... #Workup #Algorithm
Causes of Pediatric Spells - Differential Diagnosis Algorithm
Neonates and Infant Spells:
 • Benign Sleep Myoclonus
 •
- Differential Diagnosis ... Algorithm Neonates ... Torticollis • Night Terrors ... #Differential #Diagnosis ... #Algorithm #Causes
PocketPEM - Inborn Errors of Metabolism #Diagnosis #Peds #EM #Genetics #Inborn #Errors #Metabolism #OTC #GAT1 #Aciduria
PocketPEM - Inborn Errors ... of Metabolism #Diagnosis ... #Peds #EM #Genetics ... #Inborn #Errors
Hyperkalemia Differential Diagnosis Algorithm
R/O Pseudo-hyperkalemia:
 • Possible Lab error! Alwavs Repeat Blood sample!
 • Leukocytosis, Thrombocytosis:
Hyperkalemia Differential Diagnosis ... Algorithm R/O ... • Possible Lab error ... #Differential #Diagnosis ... #Algorithm #causes