148 related articles for article (PubMed ID: 11855930)
1. Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.
Hintz SR; Matern D; Strauss A; Bennett MJ; Hoyme HE; Schelley S; Kobori J; Colby C; Lehman NL; Enns GM
Mol Genet Metab; 2002 Feb; 75(2):120-7. PubMed ID: 11855930
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis.
Matern D; Strauss AW; Hillman SL; Mayatepek E; Millington DS; Trefz FK
Pediatr Res; 1999 Jul; 46(1):45-9. PubMed ID: 10400133
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. Neonatal screening for defects of the mitochondrial trifunctional protein.
Sander J; Sander S; Steuerwald U; Janzen N; Peter M; Wanders RJ; Marquardt I; Korenke GC; Das AM
Mol Genet Metab; 2005 Jun; 85(2):108-14. PubMed ID: 15896654
[TBL] [Abstract][Full Text] [Related]
10. Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management.
Shekhawat PS; Matern D; Strauss AW
Pediatr Res; 2005 May; 57(5 Pt 2):78R-86R. PubMed ID: 15817498
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Mitochondrial fatty acid oxidation disorders in Thai infants: a report of 3 cases.
Wasant P; Matsumoto I; Naylor E; Liammongkolkul S
J Med Assoc Thai; 2002 Aug; 85 Suppl 2():S710-9. PubMed ID: 12403251
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Analysis of isomeric long-chain hydroxy fatty acids by tandem mass spectrometry: application to the diagnosis of long-chain 3-hydroxyacyl CoA dehydrogenase deficiency.
Johnson DW; Trinh MU
Rapid Commun Mass Spectrom; 2003; 17(2):171-5. PubMed ID: 12512097
[TBL] [Abstract][Full Text] [Related]
17. [Metabolic crisis in an infant--is the problem in the mitochondria?].
Tyni T; Pihko H
Duodecim; 2002; 118(13):1331-9. PubMed ID: 12239878
[No Abstract] [Full Text] [Related]
18. 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]
19. Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies.
Lundy CT; Shield JP; Kvittingen EA; Vinorum OJ; Trimble ER; Morris AA
J Inherit Metab Dis; 2003; 26(6):537-41. PubMed ID: 14605499
[TBL] [Abstract][Full Text] [Related]
20. Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome?
Holub M; Bodamer OA; Item C; Mühl A; Pollak A; Stöckler-Ipsiroglu S
Acta Paediatr; 2005 Jan; 94(1):48-52. PubMed ID: 15858960
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]