218 related articles for article (PubMed ID: 11263545)
1. Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review.
Wang SS; Fernhoff PM; Hannon WH; Khoury MJ
Genet Med; 1999; 1(7):332-9. PubMed ID: 11263545
[TBL] [Abstract][Full Text] [Related]
2. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.
Andresen BS; Dobrowolski SF; O'Reilly L; Muenzer J; McCandless SE; Frazier DM; Udvari S; Bross P; Knudsen I; Banas R; Chace DH; Engel P; Naylor EW; Gregersen N
Am J Hum Genet; 2001 Jun; 68(6):1408-18. PubMed ID: 11349232
[TBL] [Abstract][Full Text] [Related]
3. Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening.
Yusupov R; Finegold DN; Naylor EW; Sahai I; Waisbren S; Levy HL
Mol Genet Metab; 2010 Sep; 101(1):33-9. PubMed ID: 20580581
[TBL] [Abstract][Full Text] [Related]
4. Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.
Ziadeh R; Hoffman EP; Finegold DN; Hoop RC; Brackett JC; Strauss AW; Naylor EW
Pediatr Res; 1995 May; 37(5):675-8. PubMed ID: 7603790
[TBL] [Abstract][Full Text] [Related]
5. Molecular diagnosis and characterization of medium-chain acyl-CoA dehydrogenase deficiency.
Andresen BS; Bross P; Jensen TG; Knudsen I; Winter V; Kølvraa S; Bolund L; Gregersen N
Scand J Clin Lab Invest Suppl; 1995; 220():9-25. PubMed ID: 7652482
[TBL] [Abstract][Full Text] [Related]
6. MCAD deficiency in Denmark.
Andresen BS; Lund AM; Hougaard DM; Christensen E; Gahrn B; Christensen M; Bross P; Vested A; Simonsen H; Skogstrand K; Olpin S; Brandt NJ; Skovby F; Nørgaard-Pedersen B; Gregersen N
Mol Genet Metab; 2012 Jun; 106(2):175-88. PubMed ID: 22542437
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.
Andresen BS; Jensen TG; Bross P; Knudsen I; Winter V; Kølvraa S; Bolund L; Ding JH; Chen YT; Van Hove JL
Am J Hum Genet; 1994 Jun; 54(6):975-88. PubMed ID: 8198141
[TBL] [Abstract][Full Text] [Related]
9. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe.
Gregersen N; Winter V; Curtis D; Deufel T; Mack M; Hendrickx J; Willems PJ; Ponzone A; Parrella T; Ponzone R
Hum Hered; 1993; 43(6):342-50. PubMed ID: 7904584
[TBL] [Abstract][Full Text] [Related]
10. Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population.
Nichols MJ; Saavedra-Matiz CA; Pass KA; Caggana M
Am J Med Genet A; 2008 Mar; 146A(5):610-9. PubMed ID: 18241067
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.
Clayton PT; Doig M; Ghafari S; Meaney C; Taylor C; Leonard JV; Morris M; Johnson AW
Arch Dis Child; 1998 Aug; 79(2):109-15. PubMed ID: 9797589
[TBL] [Abstract][Full Text] [Related]
13. Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic status.
Korman SH; Gutman A; Brooks R; Sinnathamby T; Gregersen N; Andresen BS
Mol Genet Metab; 2004 Jun; 82(2):121-9. PubMed ID: 15171999
[TBL] [Abstract][Full Text] [Related]
14. Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.
Al-Hassnan ZN; Imtiaz F; Al-Amoudi M; Rahbeeni Z; Al-Sayed M; Al-Owain M; Al-Zaidan H; Al-Odaib A; Rashed MS
J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S263-7. PubMed ID: 20567907
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. [Screening of A985 to G mutation of medium-chain acyl-CoA dehydrogenase (MCAD) gene in Normandy. Evaluation of the role of MCAD deficiency in sudden infant death].
Lecoq I; Mallet E; Bonté JB; Laroche D; Travert G
C R Seances Soc Biol Fil; 1995; 189(2):295-301. PubMed ID: 8590228
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Molecular and functional characterisation of mild MCAD deficiency.
Zschocke J; Schulze A; Lindner M; Fiesel S; Olgemöller K; Hoffmann GF; Penzien J; Ruiter JP; Wanders RJ; Mayatepek E
Hum Genet; 2001 May; 108(5):404-8. PubMed ID: 11409868
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
