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4. The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. Sims HF; Brackett JC; Powell CK; Treem WR; Hale DE; Bennett MJ; Gibson B; Shapiro S; Strauss AW Proc Natl Acad Sci U S A; 1995 Jan; 92(3):841-5. PubMed ID: 7846063 [TBL] [Abstract][Full Text] [Related]
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7. Molecular prenatal diagnosis in families with fetal mitochondrial trifunctional protein mutations. Ibdah JA; Zhao Y; Viola J; Gibson B; Bennett MJ; Strauss AW J Pediatr; 2001 Mar; 138(3):396-9. PubMed ID: 11241049 [TBL] [Abstract][Full Text] [Related]
8. Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Treem WR; Rinaldo P; Hale DE; Stanley CA; Millington DS; Hyams JS; Jackson S; Turnbull DM Hepatology; 1994 Feb; 19(2):339-45. PubMed ID: 8294091 [TBL] [Abstract][Full Text] [Related]
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10. Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the beta-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid beta-oxidation with fatal outcome. Schwab KO; Ensenauer R; Matern D; Uyanik G; Schnieders B; Wanders RA; Lehnert W Eur J Pediatr; 2003 Feb; 162(2):90-5. PubMed ID: 12548384 [TBL] [Abstract][Full Text] [Related]
11. Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. Spiekerkoetter U; Sun B; Khuchua Z; Bennett MJ; Strauss AW Hum Mutat; 2003 Jun; 21(6):598-607. PubMed ID: 12754706 [TBL] [Abstract][Full Text] [Related]
12. Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant allele. Isaacs JD; Sims HF; Powell CK; Bennett MJ; Hale DE; Treem WR; Strauss AW Pediatr Res; 1996 Sep; 40(3):393-8. PubMed ID: 8865274 [TBL] [Abstract][Full Text] [Related]
13. Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene. IJlst L; Ruiter JP; Hoovers JM; Jakobs ME; Wanders RJ J Clin Invest; 1996 Aug; 98(4):1028-33. PubMed ID: 8770876 [TBL] [Abstract][Full Text] [Related]
14. General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover. Spiekerkoetter U; Khuchua Z; Yue Z; Bennett MJ; Strauss AW Pediatr Res; 2004 Feb; 55(2):190-6. PubMed ID: 14630990 [TBL] [Abstract][Full Text] [Related]
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19. Absence of the G1528C (E474Q) mutation in the alpha-subunit of the mitochondrial trifunctional protein in women with acute fatty liver of pregnancy. Maitra A; Domiati-Saad R; Yost N; Cunningham G; Rogers BB; Bennett MJ Pediatr Res; 2002 May; 51(5):658-61. PubMed ID: 11978893 [TBL] [Abstract][Full Text] [Related]
20. Evidence for fatty acid oxidation in human placenta, and the relationship of fatty acid oxidation enzyme activities with gestational age. Rakheja D; Bennett MJ; Foster BM; Domiati-Saad R; Rogers BB Placenta; 2002 May; 23(5):447-50. PubMed ID: 12061861 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]