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genetics peds diagnosis table iem inbornerrors metabolism neonatology nicu 21hydroxylasedeficiency 21ohd algorithm endocrinology laboratory metabolicemergency mnemonic patterns praderwilli prolongation qt
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... connections and pathophysiology ... of information: Pediatrics ... , UpToDate #Pediatrics ... Diagnosis #Algorithm #Differential
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
delayed puberty -> Infertility ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds #pediatrics
QTc Prolongation - Medications and Conditions that Prolong QT: From "A to N" A - Anti-A-rrhythmics B -
- Females G - Geriatrics ... H - Heart pathophysiology ... #Prolongation #differential
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