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diagnosis differential causes iem inbornerrors management metabolism neonatology nicu table 21ohd alte brue cardiology developmentaldelay endocrinology event examination fallot infant
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... #Neonatology #Peds
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 #Table ... #NICU #Genetics
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... management #cardiology #peds ... #pediatrics #treatment
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
, vomiting • Late ... a scrotum #21HydroxylaseDeficiency ... #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Causes of Developmental Delay - Differential Diagnosis Algorithm Isolated Domain Delay - Reduced Respiratory Drive: • Cognitive
Differential Diagnosis Algorithm ... • Genetic Disorder ... Landau-Kleffner Syndrome ... #Causes #Peds # ... Pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... #PraderWilli #Syndrome ... #genetics #pathophysiology ... #peds #pediatrics
Causes of Apparent Life Threatening Event (ALTE) - Differential Diagnosis Algorithm Cardiac: • Congenital Heart Disease •
Differential Diagnosis Algorithm ... Metabolism • Reye's Syndrome ... Differential #Diagnosis #Algorithm ... #Causes #Peds # ... Pediatrics
Kleefstra Syndrome is a rare genetic disorder, caused by a EHMT-1 gene deletion or mutation. Most kids
Kleefstra Syndrome ... is a rare genetic ... that make it difficult ... #PatientInfo #Peds ... #Pediatrics #Kleefstra
Newborn Infant - Routine Examination Birthweight, gestational age and birthweight percentile are noted. General observation Of the baby's
fontanelle is also a late ... Down syndrome is ... paediatrician or geneticist ... #Examination #Peds ... #Pediatrics #Diagnosis
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