65 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... complex storage diseases ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Pathophysiology
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... > Neonatal and infantile ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... cardiology #peds #pediatrics ... #treatment
Alzheimer's Disease - Summary
 • Epidemiology
 • Pathophysiology
 • Risk Factors
 • Presentation
 • Diagnosis
 •
Alzheimer's Disease ... Epidemiology • Pathophysiology ... Diagnosis • Treatment ... • Clinical Course ... diagnosis #management #geriatrics
Treatments for Sickle Cell disease

#Sicklecell #sicklecelldisease #sicklecellanemia, #sicklecells #sickle #hematology #anemia #clinical #pediatrics #FOAM #FOAMed
Treatments for Sickle ... Cell disease ... hematology #anemia #clinical ... #pediatrics #FOAM
Acute-on-Chronic Liver Failure (ACLF) Clinical Guidelines

ACLF = possibly reversible condition in those with CLD (± cirrhosis)
Acute-on-Chronic Liver ... Failure (ACLF) Clinical ... months without treatment ... disease, liver ... support, or liver
Krabbe Disease 

Check out this interesting case of Krabbe disease, a rare genetic leukodystrophy. Diagnosis was
Krabbe Disease ... case of Krabbe disease ... , a rare genetic ... testing and expedite treatment ... with clinical trials
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... an underlying genetic ... age, however the disease ... Diagnosis via genetic ... lymph node, or liver
The 6 C’s of Primary Sclerosing Cholangitis (PSC)
PSC is a chronic, cholestatic, immune-mediated disease characterized by
progression to end-stage liver ... CHOLANGITIS - Genetic ... indications for liver ... and end-stage liver ... remain subject to clinical
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics