37 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... #Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
lipoproteins and related genetic ... hypercholesterolemia #pathophysiology ... #lipoproteins #genetics
Role of G6PD in Protection against Oxidative Damage #Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
Damage #Pathophys #Peds ... #Genetics #Honc
Kawasaki Disease - Workup and Diagnostic Algorithm #Diagnosis #Management #Peds #Pediatrics #Kawasaki #Disease #Algorithm #CRASH #BURN
Kawasaki Disease - Workup ... and Diagnostic Algorithm ... Diagnosis #Management #Peds ... Kawasaki #Disease #Algorithm
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Pediatric Neutropenia Workup Algorithm

DOI: 10.1111/ijlh.13210

#Neutropenia #Workup #Algorithm #diagnosis #hematology #Pediatrics #peds
Pediatric Neutropenia Workup ... Algorithm DOI: ... #Neutropenia #Workup ... #Algorithm #diagnosis ... hematology #Pediatrics #peds
Adrenal Insufficiency - Differential Diagnosis Workup Algorithm
Primary Adrenal Insufficiency:
 • Autoimmune primary adrenal insufficiency
 • Adrenoleukodystrophy,
Differential Diagnosis Workup ... Algorithm Primary ... Adrenoleukodystrophy, genetic ... Differential #Diagnosis #Workup ... #Algorithm #endocrinology
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... management #cardiology #peds
Algorithm for the differentiation between simple and complex febrile seizures. Guidelines for evaluation of each. #Diagnosis
Algorithm for the ... Management #EM #Neuro #Peds ... Fever #Seizure #Algorithm ... #Workup #Simple