Introduction to Introduction to biochemical genetics
Introduction to Introduction to biochemical genetics
Introduction to Introduction to biochemical genetics
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Selected common situations withhigh risk of IEM• Small molecules acutelly ill newborn (repeated) atack of long-term uncosciousness failure <strong>to</strong> thrive• Complex molecules progressive CNS and musculature involvement facial dysmorphy organomegaly (liver, spleen, heart)Food and IEMs (small molecules)• (sub)acute <strong>to</strong>xicitymilk (lac<strong>to</strong>se)-hepa<strong>to</strong>pathysaccharose/fruc<strong>to</strong>se/sorbi<strong>to</strong>l- hepa<strong>to</strong>pathyand hypoglycemiaexcess protein- vomiting, lethargy, coma(urea cycle disorders, organic acidurias)
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