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 ... #Table #IEM #NICU
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Metabolism A table ... from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
> 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
Appearance of Liver Lesions on Various Imaging Modalities
 • Computed Tomography (CT) - Arterial Phase, Portal
Appearance of Liver ... malformation, Infantile ... , Metastasis #Liver ... diagnosis #comparison #table
Appearance of Liver Lesions on Computed Tomography (CT) - Arterial Phase, Portal Venous Phase and Delayed
Appearance of Liver ... malformation, Infantile ... , Metastasis #Liver ... diagnosis #comparison #table
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 ... #peds #pediatrics
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
malignancy Pathophysiology ... GH stimulates liver ... phenytoin, minoxidil), genetic ... Endocrinology #Treatment #Pathophysiology
Appearance of Liver Lesions on Contrast Enhanced Ultrasound - Early arterial, Grayscale phase, Late arterial phase,
Appearance of Liver ... malformation, Infantile ... , Metastasis #Liver ... diagnosis #comparison #table
Appearance of Liver Lesions on Magnetic Resonance Imaging (MRI) - T2, T1 precontrast, T1 portal venous,
Appearance of Liver ... malformation, Infantile ... , Metastasis #Liver ... diagnosis #comparison #table