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9篇 您的检索式:作者名="Pronicka E"
    题名 作者 年代 出处 被引量
1Reye's syndrome- diagnostic challenge 显示文摘Pronicka E 1999Pediatr Pol1999,74,:1
2Elevatedcarbohydrate-deficient transferrin(CDT)and itsnormalization on dietary treatment as a usefulbiochemical test for hereditary fructose intoleranceand galactosemia显示文摘Pronicka E Adamowicz M Kowalik A 2007Pediatr Res2007,62,1:1
3Persistent hypercalcluria and elevated 25-hyderoxyvitamin D3 in children with infantile hypercalcaemia显示文摘Pronicka E Rowinska E Kulczycka H 1997Pediatr Nephrol1997,11,1:1
4Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure显示文摘Pronicka E Weglewska-Jurkiewicz A Taybert J 2011J Appl Genet2011,52,1:1
5Persistent hypercalciuria and elevated 25-hyderoxyvitamin D3 in children with infantile hypercalcaemia显示文摘Pronicka E Rowinska E Kulczycka H 1997Pediatr Nephrol1997,11,1:1
6Retrospective, muhicentric study of 180 children with cytochrome C oxidase deficiency 显示文摘Bohm M Pronicka E Karczmarewicz E 2006Pediatr Res2006,59,1:1
7Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence显示文摘Stolarski B Pronicka E Komiszewski L 2006Clin Genet2006,70,4:1
8Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population 显示文摘Gruchota J Pronicka E Koruiszewski L 2006Mol Genet Metab2006,87,4:1
9Mitochondrial diseases in children including Leigh syndrome-biochemical and molecular background显示文摘PRONICKA E PIEKUTOWSKA-ABRAMCZUK D PRONICKI M 2008Postepy Biochem2008,54,2:1
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