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diagnosis peds differential causes pathophysiology iem inbornerrors management metabolism neonatology nicu 21hydroxylasedeficiency 21ohd absorption antibiotics clinical dermatology developmentaldelay ebm endocrinology
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
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis #Algorithm ... #Table #IEM #NICU
Harlequin Ichthyosis Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... #physicalexam #pediatrics ... #genetics #dermatology
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 The following table from MacGregor (1997) summarizes the bioavailability of many commonly used antibiotics: #EBM #Pharmacology #InfectiousDiseases
The following table ... summarizes the bioavailability ... Antibiotics #Absorption #Kinetics ... PeakSerumLevels #Bioavailability ... #Table #first10em
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
PraderWilli #Syndrome #genetics ... pathophysiology #peds #pediatrics
Causes of Hypomagnesemia - Differential Diagnosis Algorithm GI LOSS - FeMg < 2-2.5% or 24h Urine Mg
Differential Diagnosis Algorithm ... other EGFR ab • Genetics ... Differential #Diagnosis #Algorithm
Causes of Pelvic Organ Prolapse - Differential Diagnosis Algorithm Herniation of one or more pelvic organs Risk factors:
Differential Diagnosis Algorithm ... Risk factors: genetics ... Differential #Diagnosis #Algorithm
Causes of Developmental Delay - Differential Diagnosis Algorithm Isolated Domain Delay - Reduced Respiratory Drive: • Cognitive
Differential Diagnosis Algorithm ... Syndromic • Genetic ... Differential #Diagnosis #Algorithm ... #Causes #Peds #Pediatrics
Causes of Growth Restriction - Small for Gestational Age - Differential Diagnosis Algorithm Maternal • Chronic Maternal
Differential Diagnosis Algorithm ... Chromosomal Anomaly • Genetic ... Differential #Diagnosis #Algorithm ... Causes #Obstetrics #Pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
pathophysiology #genetics ... endocrinology #peds #pediatrics
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