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2. 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]
3. 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]
4. Accumulation of 3-hydroxy-fatty acids in the culture medium of long-chain L-3-hydroxyacyl CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein-deficient skin fibroblasts: implications for medium chain triglyceride dietary treatment of LCHAD deficiency. Jones PM; Butt Y; Bennett MJ Pediatr Res; 2003 May; 53(5):783-7. PubMed ID: 12621125 [TBL] [Abstract][Full Text] [Related]
5. Neither maternal nor fetal mutation (E474Q) in the alpha-subunit of the trifunctional protein is frequent in pregnancies complicated by HELLP syndrome. Mütze S; Ahillen I; Rudnik-Schoeneborn S; Eggermann T; Leeners B; Neumaier-Wagner PM; Kuse S; Rath W; Zerres K J Perinat Med; 2007; 35(1):76-8. PubMed ID: 17313315 [TBL] [Abstract][Full Text] [Related]
6. A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. Ibdah JA; Bennett MJ; Rinaldo P; Zhao Y; Gibson B; Sims HF; Strauss AW N Engl J Med; 1999 Jun; 340(22):1723-31. PubMed ID: 10352164 [TBL] [Abstract][Full Text] [Related]
7. Long-chain fatty acid oxidation during early human development. Oey NA; den Boer ME; Wijburg FA; Vekemans M; Augé J; Steiner C; Wanders RJ; Waterham HR; Ruiter JP; Attié-Bitach T Pediatr Res; 2005 Jun; 57(6):755-9. PubMed ID: 15845636 [TBL] [Abstract][Full Text] [Related]
8. Prospective screening for pediatric mitochondrial trifunctional protein defects in pregnancies complicated by liver disease. Yang Z; Yamada J; Zhao Y; Strauss AW; Ibdah JA JAMA; 2002 Nov; 288(17):2163-6. PubMed ID: 12413376 [TBL] [Abstract][Full Text] [Related]
9. Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy - a common feature of the pregnancy complication? Eskelin PM; Laitinen KA; Tyni TA Mol Genet Metab; 2010 Jun; 100(2):204-6. PubMed ID: 20363656 [TBL] [Abstract][Full Text] [Related]
10. [LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency as a cause of sudden death of a three months old infant]. Neuman-Łaniec M; Wierzba J; Irga N; Zaborowska-Sołtys M; Balcerska A Med Wieku Rozwoj; 2002; 6(3):221-6. PubMed ID: 12637776 [TBL] [Abstract][Full Text] [Related]
11. [Variation of long-chain 3-hydroxyacyl-CoA dehydrogenase DNA methylation in placenta of different preeclampsia-like mouse models]. Han Y; Yang Z; Ding X; Yu H; Yi Y Zhonghua Fu Chan Ke Za Zhi; 2015 Oct; 50(10):740-6. PubMed ID: 26675572 [TBL] [Abstract][Full Text] [Related]
12. Heterozygosity for the common LCHAD mutation (1528g>C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low. den Boer ME; Ijlst L; Wijburg FA; Oostheim W; van Werkhoven MA; van Pampus MG; Heymans HS; Wanders RJ Pediatr Res; 2000 Aug; 48(2):151-4. PubMed ID: 10926288 [TBL] [Abstract][Full Text] [Related]
13. [Variation of long-chain 3-hydroxyacyl CoA dehydrogenase DNA methylated modification and correlation with gene mRNA expression of early-onset preeclampsia, HELLP syndrome and antiphospholipid syndrome in trophoblast cells of placenta]. Meng R; Yang Z; Wang HL; Han YW; Wang YL; Yu H Zhonghua Fu Chan Ke Za Zhi; 2016 Apr; 51(4):270-8. PubMed ID: 27116985 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Tyni T; Paetau A; Strauss AW; Middleton B; Kivelä T Pediatr Res; 2004 Nov; 56(5):744-50. PubMed ID: 15347768 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. No mutation was found in the alpha-subunit of the mitochondrial tri-functional protein in one patient with severe acute fatty liver of pregnancy and her relatives. Kong XF; Zhang XX; Yu YY; Shi Q; La DD; Zhu-Ge CD; Deng L; Gong QM; Shen BY; Peng CH; Li HW J Gastroenterol Hepatol; 2007 Dec; 22(12):2107-11. PubMed ID: 18031367 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. Mutations in long-chain 3-hydroxyacyl coenzyme a dehydrogenase are associated with placental maternal floor infarction/massive perivillous fibrin deposition. Griffin AC; Strauss AW; Bennett MJ; Ernst LM Pediatr Dev Pathol; 2012; 15(5):368-74. PubMed ID: 22746996 [TBL] [Abstract][Full Text] [Related]
20. Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts. Roe DS; Yang BZ; Vianey-Saban C; Struys E; Sweetman L; Roe CR Mol Genet Metab; 2006 Jan; 87(1):40-7. PubMed ID: 16297647 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]