170 results
PocketPEM - Inborn Errors of Metabolism #Diagnosis #Peds #EM #Genetics #Inborn #Errors #Metabolism #OTC #GAT1 #Aciduria
Diagnosis #Peds #EM #Genetics ... Metabolism #OTC #GAT1
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... physicalexam #pediatrics #genetics
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
lipoproteins and related genetic ... #lipoproteins #genetics
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
Triglycerides - Genetic ... Decreased HDL - Genetic ... Increased LDL Genetic ... Triglycerides - Genetic
Etiologies of Hypoaldosteronism

Hyporeninemic Hypoaldosteronism (Low Renin, Low Aldosterone)
 - Diabetic Nephropathy 
 - NSAIDs
Non-Hyporeninemic Hypoaldosteronism (Normal
Critical illness - Genetic ... Sulfamethoxazole - Genetic
Some of the techniques used for Antenatal Diagnosis

Amniocentesis 
 - Chromosome/micro-array and DNA analysis 
 -
Preimplantation genetic ... fertilisation allows genetic ... Non-invasive genetic
Angiotensin-Converting Enzyme Inhibitors - Inhibit the conversion of AngI to AngII
 • Captopril, Lisinopril, Enalapril, Benazepril,
Blockers - Block AT1
Primary and Secondary Causes of Cardiomyopathy
(a) Primary cardiomyopathies 
 - Genetic 
 - Mixed (genetic/acquired)
cardiomyopathies - Genetic ... - Mixed (genetic
Mechanisms of Loop Diuretic Action and Resistance. Panel A, loop diuretics circulate bound to protein. As
transporters (OAT1
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
#Table #NICU #Genetics