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peds algorithm differential iem inbornerrors metabolism neonatology 21hydroxylasedeficiency 21ohd cardiology causes endocrinology fallot gestationalage growthrestriction laboratory management metabolicemergency obstetrics patterns
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
of information: Pediatrics ... , UpToDate #Pediatrics ... #Diagnosis #Algorithm ... Neonatology #Peds #Pediatrics ... #Table #IEM #NICU
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
Metabolism A table ... 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
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... Tetralogy #Fallot #diagnosis ... cardiology #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
also known as "congenital ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Causes of Growth Restriction - Small for Gestational Age - Differential Diagnosis Algorithm Maternal • Chronic Maternal
- Differential Diagnosis ... Chromosomal Anomaly • Genetic ... Syndromes • Congenital ... #Differential #Diagnosis ... Causes #Obstetrics #Pediatrics
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