14 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... the lab values table ... MetabolicEmergency #Genetics ... #Pathophysiology ... Peds #Pediatrics #Table
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
lipoproteins and related genetic ... hypercholesterolemia #pathophysiology ... #lipoproteins #genetics
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 ... Peds #Pediatrics #Table ... #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
PraderWilli #Syndrome #genetics ... #pathophysiology
The following table from MacGregor (1997) summarizes the bioavailability of many commonly used antibiotics:
#EBM #Pharmacology #InfectiousDiseases
The following table ... Antibiotics #Absorption #Kinetics ... Bioavailability #Table
Pathogenesis of Anxiety Disorders

Anxiety Disorders: A maladaptive emotional state causing fear,
worry, and excessive stress, characterized by:
reporting rates) • Genetics ... Anxiety #Disorders #Pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
#21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology
Hypomagnesemia - Etiologies by Mechanism

Decreased GI Uptake 
 - Poor dietary intake (particularly common in alcoholics)
syndrome - Genetic ... Low #Magnesium #Table ... #Classification
Antibiotic classification refers to the categorization of antibiotics based on their chemical structure, mechanism of action,
Antibiotic classification ... the individual's genetic ... #pharmacology #classification ... #table
Hypersensitivity Types and Their Mechanisms
Type I - lgE - Soluble antigen
 - Allergen-specific lgE antibodies bind
Hypersensitivity #Types #Classification ... #Pathophysiology ... Diagnosis #Reactions #Table