58 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Lab patterns seen ... A table of lab ... values compiled ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics
Normal Laboratory Values

#Laboratory #Values #Labs #Reference #Normal #Chemistries
Normal Laboratory ... Values #Laboratory ... #Values #Labs # ... Reference #Normal
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
See the lab values ... MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis #Algorithm
Reference Laboratory Values - Fishbone Shorthand
Complete Blood Count (CBC), Basic Metabolic Panel (BMP), Liver Function Tests
Reference Laboratory Values ... #Laboratory #Values ... #Labs #Reference ... #Normal #Fishbone
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
Differential Diagnosis Algorithm ... Triglycerides - Genetic ... Decreased HDL - Genetic ... Increased LDL Genetic ... Differential #Diagnosis #Algorithm
Clinical features of varicose vein disease and Trendelenburg Brodie test for venous valve competence
Varicose veins result
test for venous valve ... absent or faulty valves ... that result in abnormal ... saphenofemoral valve ... TrendelenburgBrodie #test #physicalexam
Liver Function Tests (LFTs) - Normal Values and Interpretation

Alanine aminotransferase (ALT/SGPT) - Liver, cardiac & skeletal
Tests (LFTs) - Normal ... Values and Interpretation ... hepatocellular injury, genetic ... prothrombin time across labs ... LFTs #Laboratory #Values
Causes of Hypomagnesemia - Differential Diagnosis Algorithm
GI LOSS - FeMg < 2-2.5% or 24h Urine Mg
Differential Diagnosis Algorithm ... and other EGFR ab ... • Genetics defects ... Differential #Diagnosis #Algorithm
Mitral Valve Regurgitation - Carpentier Classification
Type I - Normal Leaflet Motion
   - Type la
Mitral Valve Regurgitation ... Classification Type I - Normal ... Motion - Type la ... dilatation - Type lb
Krabbe Disease 

Check out this interesting case of Krabbe disease, a rare genetic leukodystrophy. Diagnosis was
disease, a rare genetic ... guide confirmatory lab ... • Symmetric abnormal