159 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
InbornErrors #Metabolism #Neonatology ... #Table #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... #Differential #Neonatology
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... physicalexam #pediatrics #genetics
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Infant of a Diabetic Mother - complications - pathophysiology learning schema
Information source: UpToDate

#Infant #Diabetic #Mother #Pediatrics
Mother #Pediatrics #Neonatology
Metabolism of plasma lipoproteins and related genetic diseases - Familial Hypercholesterolemia
Type I (FAMILIAL HYPERCHYLOMICRONEMIA) 
Type IIA
lipoproteins and related genetic ... #lipoproteins #genetics
gestational diabetes algorithm
#Infant #Diabetic #Mother #Pediatrics #Neonatology #IDM #NICU #OBGYN #Diagnosis #Pathophysiology #Maternal #Complications #Peds #Newborn
Mother #Pediatrics #Neonatology
Rapid Assessment of the Neonate With Sonography (RANS) Scan

Recommended algorithm for RANS scan. 
* Abnormal vital
Peds #Pediatrics #Neonatology
Abnormal Lipid Profiles - Differential Diagnosis Algorithm

Increased Cholesterol and Triglycerides 
 - Genetic Causes
Triglycerides - Genetic ... Decreased HDL - Genetic ... Increased LDL Genetic ... Triglycerides - Genetic
Primary and Secondary Causes of Cardiomyopathy
(a) Primary cardiomyopathies 
 - Genetic 
 - Mixed (genetic/acquired)
cardiomyopathies - Genetic ... - Mixed (genetic
Etiologies of Hypoaldosteronism

Hyporeninemic Hypoaldosteronism (Low Renin, Low Aldosterone)
 - Diabetic Nephropathy 
 - NSAIDs
Non-Hyporeninemic Hypoaldosteronism (Normal
Critical illness - Genetic ... Sulfamethoxazole - Genetic