1435 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
InbornErrors #Metabolism #Neonatology ... #Table #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... #Differential #Neonatology
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... physicalexam #pediatrics #genetics
Infant of a Diabetic Mother - complications - pathophysiology learning schema
Information source: UpToDate

#Infant #Diabetic #Mother #Pediatrics
Mother #Pediatrics #Neonatology
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
Triglycerides - Genetic ... • Nephrotic Syndrome ... Decreased HDL - Genetic ... Increased LDL Genetic ... • Nephrotic Syndrome
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
lipoproteins and related genetic ... #lipoproteins #genetics
Spinal Cord Injury Syndromes
Complete, Incomplete, Paraplegia, Tetraplegia
Incomplete Spinal Cord Syndromes:
 - Brown Sequard Syndrome
 - Anterior
Spinal Cord Injury Syndromes ... Brown Sequard Syndrome ... Anterior Cord Syndrome ... Posterior Cord Syndrome ... - Central Cord Syndrome
Central Cord Syndromes
 - Anterior Cord Syndrome
 - Central Cord Syndrome
 - Brown Sequard Syndrome

#CentralCord #Syndromes
Central Cord Syndromes ... Anterior Cord Syndrome ... - Central Cord Syndrome ... Brown Sequard Syndrome ... #CentralCord #Syndromes
Carpal Tunnel Syndrome 
Compression of median nerve 
Risk Factors 
 • Obesity 
 • Female gender
Carpal Tunnel Syndrome ... diseases) • Genetic ... #CarpalTunnel #Syndrome
Ashkenazi Jewish Genetic Screening Algorithm
 • Bloom syndrome
 • Canavan disease
 • Familial dysautonomia
 • Fanconi
Ashkenazi Jewish Genetic ... Algorithm • Bloom syndrome ... 1A • Joubert syndrome ... type 1B • Usher syndrome ... Ashkenazi #Jewish #Genetic