18 results
Simplified Diagnosis of Metabolic Disorders
#Diagnosis #Peds #Pediatrics #Inherited #Congenital #Metabolism #Metabolic #Diseases #Disorders #Ketones #Ammonia #Differential
Simplified Diagnosis ... Metabolic Disorders #Diagnosis ... #Peds #Pediatrics ... Disorders #Ketones #Ammonia ... #Differential #
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
major sources of ammonia ... Reye syndrome (Peds ... #Pathophysiology ... Hyperammonemia #Differential ... #Diagnosis
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... #Differential # ... Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
additions, for diagnosing ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics ... Laboratory #Patterns #diagnosis
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
delayed puberty -> Infertility ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Tetralogy #Fallot #diagnosis ... management #cardiology #peds
Congestive Heart Failure - Causes, Pathophysiology and Differential Diagnosis
 • Dilated Cardiomyopathy 
 • Hypertrophic Cardiomyopathy
and Differential ... Diagnosis • Dilated ... Infiltrative • Genetic ... #Differential # ... Diagnosis #cardiology
Non-cirrhotic Hyperammonemia - Differential Diagnosis Framework

Hematologic & Vascular:
 • Multiple myeloma & Acute leukemia (plasma cells
Hyperammonemia - Differential ... Diagnosis Framework ... Hyperammonemia #ammonia ... #Differential # ... Diagnosis #Pathophysiology
Types of Renal Calculi

Calcium oxalate
 - Interstitial apatite plaque, Low urine volume, Increased urinary calcium excretion,
Autosomal recessive genetic ... - Magnesium, ammonium ... Infection with ammonia-producing ... Renal #stones #differential ... #diagnosis #causes
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics