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In mice, biotin deficiency is one of the most potent clefting factors. Increased 3-hydroxyisovalerylcarnitine (C5OH) is regarded as a biomarker of biotin deficiency. This retrospective study was undertaken to determine whether increased C5OH in newborns is associated with orofacial clefts.Seventy newborns with non-syndromic cleft lip with or without cleft palate and 140 control newborns without congenital...
Metabolity talidomidu, np. pochodne kwasu glutarowego, działają teratogennie. Zwiększone wytwarzanie kwasu glutarowego skutkuje wzrostem stężenia glutarylkarnityny (C5DC). W badaniu przesiewowym noworodków w kierunku kwasicy glutarowej są wykorzystywane oznaczenia C5DC.Celem pracy była analiza stężenia C5DC u dzieci z rozszczepami twarzoczaszki.Retrospektywnie analizowano wyniki oznaczeń C5DC w badaniach...
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