5 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
values compiled ... from UpToDate and Pediatrics ... 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
See the lab values ... of information: Pediatrics ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... Neonatology #Peds #Pediatrics
Short Stature - Differential Diagnosis Algorithm
Normal Variant, Normal Puberty Onset (BA = CA)
 • Familial Short
Differential Diagnosis Algorithm ... Dwarfism) • Hypothyroidism ... Differential #Diagnosis #Algorithm ... #endocrinology ... #causes #pediatrics
Causes of Growth Restriction - Small for Gestational Age - Differential Diagnosis Algorithm
Maternal
 • Chronic Maternal
Causes of Growth ... Chromosomal Anomaly • Genetic ... Placenta Previa • Abnormal ... #Causes #Obstetrics ... #Pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... be labeled as males ... pathophysiology #genetics ... #endocrinology ... #peds #pediatrics