30 results
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 ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis #Algorithm ... #Neonatology #Peds ... #Pediatrics #Table
Role of G6PD in Protection against Oxidative Damage #Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
Damage #Pathophys #Peds ... #Genetics #Honc
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... PraderWilli #Syndrome #genetics ... pathophysiology #peds
Causes of Pelvic Organ Prolapse - Differential Diagnosis Algorithm
Herniation of one or more pelvic organs
Risk factors:
Differential Diagnosis Algorithm ... Risk factors: genetics ... Rectum - Defecatory symptoms ... Differential #Diagnosis #Algorithm
Causes of Hypomagnesemia - Differential Diagnosis Algorithm
GI LOSS - FeMg < 2-2.5% or 24h Urine Mg
Differential Diagnosis Algorithm ... other EGFR ab • Genetics ... Differential #Diagnosis #Algorithm
#Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
#Pathophys #Peds ... #Genetics #Honc
Practical Pediatric Viral Rash Algorithm

Child presenting with rash and current/ recent symptoms of viral illness but
Pediatric Viral Rash Algorithm ... current/ recent symptoms ... and no signs/ symptoms ... #Rash #Viral #Algorithm ... #Pediatrics #Peds
PEMSource: Algorithm for fever WITHOUT source by Age
#Diagnosis #Management #Peds #Fever #Without #Source #Table #Algorithm #PEMSource
PEMSource: Algorithm ... Diagnosis #Management #Peds ... Without #Source #Table ... #Algorithm #PEMSource
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... pathophysiology #genetics ... endocrinology #peds