Utero genetics peds - GrepMed

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767 results

21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase

do not occur in utero ... pathophysiology #genetics ... endocrinology #peds

Role of G6PD in Protection against Oxidative Damage #Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM

Damage #Pathophys #Peds ... #Genetics #Honc

Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the

Ichthyosis Rare genetic ... physicalexam #pediatrics #genetics

Baby Sneeze in Utero - Fetal Ultrasound

Vivienne Meljen, MD @StethoscopeOn

#Baby #Sneeze #Utero #POCUS #Fetal #Ultrasound #POCUS

Baby Sneeze in Utero ... #Baby #Sneeze #Utero

Tetralogy of Fallot Summary
• Anatomy
• Incidence
• Pathophysiology
• Presentation
• Common Variants
•

• Associated Genetic ... management #cardiology #peds

Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA)
Type IIA

lipoproteins and related genetic ... #lipoproteins #genetics

Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and

#Neonatology #Peds ... #Table #NICU #Genetics

A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps

MetabolicEmergency #Genetics ... #Neonatology #Peds

Fetal Yawn on Fetal Ultrasound

The fetal yawn will always be one of my favorite in utero

my favorite in utero

PocketPEM - Resus Meds
#Management #Pharm #Peds #EM #Resus #Medications #ResusMeds #Resuscitation #PocketCard #PocketPEM

PocketPEM - Resus Meds ... Management #Pharm #Peds

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