22 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
See the lab values ... of information: Pediatrics ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... Neonatology #Peds #Pediatrics
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... Harlequin #Ichthyosis #clinical ... #physicalexam #pediatrics ... #genetics #dermatology
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
A table of lab values ... 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
Syndrome Signs/Symptoms ... /Complications: ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Complications of sickle cell disease slide 2/3 

#Sicklecell #sicklecelldisease #sicklecellanemia, #sicklecells #sickle #hematology #anemia #clinical #pediatrics
Complications of ... sicklecells #sickle #hematology ... #anemia #clinical ... #pediatrics #FOAM
Complications of Sickle Cell Disease slide 1/3

#Sicklecell #sicklecelldisease #sicklecellanemia, #sicklecells #sickle #hematology #anemia #clinical #pediatrics #FOAM
Complications of ... sicklecells #sickle #hematology ... #anemia #clinical ... #pediatrics #FOAM
complications of sickle cell disease slide 3/3

#Sicklecell #sicklecelldisease #sicklecellanemia, #sicklecells #sickle #hematology #anemia #clinical #pediatrics #FOAM
complications of ... sicklecells #sickle #hematology ... #anemia #clinical ... #pediatrics #FOAM
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... / Complications ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Clinical Features and Complications of Measles

Rash:
Spreads downwards, from behind the ears to the whole Of the
Clinical Features ... and Complications ... KoplikSpots #Peds #Pediatrics ... Timeline #Signs #Symptoms
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics