BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

185 related articles for article (PubMed ID: 11101700)

  • 1. Preimplantation genetic diagnosis for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
    Sermon K; Henderix P; Lissens W; De Vos A; Vandervorst M; Vanderfaeillie A; Vamos E; Van Steirteghem A; Liebaers I
    Mol Hum Reprod; 2000 Dec; 6(12):1165-8. PubMed ID: 11101700
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A successful strategy for preimplantation diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
    Ioulianos A; Wells D; Harper JC; Delhanty JD
    Prenat Diagn; 2000 Jul; 20(7):593-8. PubMed ID: 10913960
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).
    Andresen BS; Bross P; Jensen TG; Winter V; Knudsen I; Kølvraa S; Jensen UB; Bolund L; Duran M; Kim JJ
    Am J Hum Genet; 1993 Sep; 53(3):730-9. PubMed ID: 8102510
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects.
    Matsubara Y; Narisawa K; Tada K
    Eur J Pediatr; 1992 Mar; 151(3):154-9. PubMed ID: 1601002
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.
    Brackett JC; Sims HF; Steiner RD; Nunge M; Zimmerman EM; deMartinville B; Rinaldo P; Slaugh R; Strauss AW
    J Clin Invest; 1994 Oct; 94(4):1477-83. PubMed ID: 7929823
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.
    Tanaka K; Yokota I; Coates PM; Strauss AW; Kelly DP; Zhang Z; Gregersen N; Andresen BS; Matsubara Y; Curtis D
    Hum Mutat; 1992; 1(4):271-9. PubMed ID: 1363805
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Screening of the most common medium-chain acyl CoA dehydrogenase (MCAD) deficiency mutation (K329E) in the Czech newborn population.
    Kozàk L; Hrabincovà E; Rudolfoà J; Vràbelovà S; Freiberger T
    Southeast Asian J Trop Med Public Health; 1999; 30 Suppl 2():49-50. PubMed ID: 11400780
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood.
    Gregersen N; Winter V; Jensen PK; Holmskov A; Kølvraa S; Andresen BS; Christensen E; Bross P; Lundemose JB; Gregersen M
    Prenat Diagn; 1995 Jan; 15(1):82-6. PubMed ID: 7740006
    [TBL] [Abstract][Full Text] [Related]  

  • 9. High risk of medium chain acyl-coenzyme A dehydrogenase deficiency among gypsies.
    Martinez G; Garcia-Lozano JR; Ribes A; Maldonado MD; Baldellou A; de Pablo R; Nuñez-Roldan A
    Pediatr Res; 1998 Jul; 44(1):83-4. PubMed ID: 9667375
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.
    Gregersen N; Andresen BS; Corydon MJ; Corydon TJ; Olsen RK; Bolund L; Bross P
    Hum Mutat; 2001 Sep; 18(3):169-89. PubMed ID: 11524729
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Frequency of medium-chain acyl-CoA dehydrogenase deficiency G-985 mutation in sudden infant death syndrome.
    Miller ME; Brooks JG; Forbes N; Insel R
    Pediatr Res; 1992 Apr; 31(4 Pt 1):305-7. PubMed ID: 1570195
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.
    Yokota I; Coates PM; Hale DE; Rinaldo P; Tanaka K
    Am J Hum Genet; 1991 Dec; 49(6):1280-91. PubMed ID: 1684086
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Delayed diagnosis of fatal medium-chain acyl-CoA dehydrogenase deficiency in a child.
    Shetty AK; Craver RD; Harris JA; Schmidt-Sommerfeld E
    Pediatr Emerg Care; 1999 Dec; 15(6):399-401. PubMed ID: 10608324
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The Netherlands.
    de Vries HG; Niezen-Koning K; Kliphuis JW; Smit GP; Scheffer H; ten Kate LP
    Hum Genet; 1996 Jul; 98(1):1-2. PubMed ID: 8682492
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Immunochemical characterization of variant medium-chain acyl-CoA dehydrogenase in fibroblasts from patients with medium-chain acyl-CoA dehydrogenase deficiency.
    Coates PM; Indo Y; Young D; Hale DE; Tanaka K
    Pediatr Res; 1992 Jan; 31(1):34-8. PubMed ID: 1594327
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.
    Van Hove JL; Zhang W; Kahler SG; Roe CR; Chen YT; Terada N; Chace DH; Iafolla AK; Ding JH; Millington DS
    Am J Hum Genet; 1993 May; 52(5):958-66. PubMed ID: 8488845
    [TBL] [Abstract][Full Text] [Related]  

  • 17. DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency.
    Andresen BS; Olpin S; Kvittingen EA; Augoustides-Savvopoulou P; Lindhout D; Halley DJ; Vianey-Saban C; Wanders RJ; Ijlst L; Schroeder LD; Bolund L; Gregersen N
    J Inherit Metab Dis; 1999 May; 22(3):281-5. PubMed ID: 10384387
    [No Abstract]   [Full Text] [Related]  

  • 18. Three RFLPs defining a haplotype associated with the common mutation in human medium-chain acyl-CoA dehydrogenase (MCAD) deficiency occur in Alu repeats.
    Zhang Z; Kolvraa S; Zhou Y; Kelly DP; Gregersen N; Strauss AW
    Am J Hum Genet; 1993 Jun; 52(6):1111-21. PubMed ID: 8099254
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Atypical course of a multiple acyl-CoA-dehydrogenase deficiency].
    Rose M; Matern D; Millington DS; Lehnert W
    Klin Padiatr; 1999; 211(5):413-6. PubMed ID: 10572901
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency.
    Okun JG; Kölker S; Schulze A; Kohlmüller D; Olgemöller K; Lindner M; Hoffmann GF; Wanders RJ; Mayatepek E
    Biochim Biophys Acta; 2002 Oct; 1584(2-3):91-8. PubMed ID: 12385891
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.