275 related articles for article (PubMed ID: 16291504)
1. Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.
Waddell L; Wiley V; Carpenter K; Bennetts B; Angel L; Andresen BS; Wilcken B
Mol Genet Metab; 2006 Jan; 87(1):32-9. PubMed ID: 16291504
[TBL] [Abstract][Full Text] [Related]
2. Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening.
Hsu HW; Zytkovicz TH; Comeau AM; Strauss AW; Marsden D; Shih VE; Grady GF; Eaton RB
Pediatrics; 2008 May; 121(5):e1108-14. PubMed ID: 18450854
[TBL] [Abstract][Full Text] [Related]
3. Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.
Maier EM; Liebl B; Röschinger W; Nennstiel-Ratzel U; Fingerhut R; Olgemöller B; Busch U; Krone N; v Kries R; Roscher AA
Hum Mutat; 2005 May; 25(5):443-52. PubMed ID: 15832312
[TBL] [Abstract][Full Text] [Related]
4. Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.
Smith EH; Thomas C; McHugh D; Gavrilov D; Raymond K; Rinaldo P; Tortorelli S; Matern D; Highsmith WE; Oglesbee D
Mol Genet Metab; 2010 Jul; 100(3):241-50. PubMed ID: 20434380
[TBL] [Abstract][Full Text] [Related]
5. 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]
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. Assessment of the prevalence of the 985A>G MCAD mutation in the French-Canadian population using allele-specific PCR.
Giroux S; Dubé-Linteau A; Cardinal G; Labelle Y; Laflamme N; Giguère Y; Rousseau F
Clin Genet; 2007 Jun; 71(6):569-75. PubMed ID: 17539907
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Dissection of biochemical borderline phenotypes in carriers and genetic variants of medium-chain acyl-CoA dehyrogenase deficiency: implications for newborn screening [corrected].
Maier EM; Pongratz J; Muntau AC; Liebl B; Nennstiel-Ratzel U; Busch U; Fingerhut R; Olgemöller B; Roscher AA; Röschinger W
Clin Genet; 2009 Aug; 76(2):179-87. PubMed ID: 19780764
[TBL] [Abstract][Full Text] [Related]
10. Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: a relationship between genotype and biochemical phenotype?
Lehotay DC; LePage J; Thompson JR; Rockman-Greenberg C
J Inherit Metab Dis; 2004; 27(1):81-8. PubMed ID: 14970748
[TBL] [Abstract][Full Text] [Related]
11. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.
Rhead WJ
J Inherit Metab Dis; 2006; 29(2-3):370-7. PubMed ID: 16763904
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Newborns with C8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation.
Blois B; Riddell C; Dooley K; Dyack S
J Inherit Metab Dis; 2005; 28(4):551-6. PubMed ID: 15902558
[TBL] [Abstract][Full Text] [Related]
14. Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening.
Nennstiel-Ratzel U; Arenz S; Maier EM; Knerr I; Baumkötter J; Röschinger W; Liebl B; Hadorn HB; Roscher AA; von Kries R
Mol Genet Metab; 2005 Jun; 85(2):157-9. PubMed ID: 15896661
[TBL] [Abstract][Full Text] [Related]
15. [Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management].
Feillet F; Ogier H; Cheillan D; Aquaviva C; Labarthe F; Baruteau J; Chabrol B; de Lonlay P; Valayanopoulos V; Garnotel R; Dobbelaere D; Briand G; Jeannesson E; Vassault A; Vianey-Saban C;
Arch Pediatr; 2012 Feb; 19(2):184-93. PubMed ID: 22244319
[TBL] [Abstract][Full Text] [Related]
16. Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene.
McKinney JT; Longo N; Hahn SH; Matern D; Rinaldo P; Strauss AW; Dobrowolski SF
Mol Genet Metab; 2004 Jun; 82(2):112-20. PubMed ID: 15171998
[TBL] [Abstract][Full Text] [Related]
17. Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency.
Anderson DR; Viau K; Botto LD; Pasquali M; Longo N
Mol Genet Metab; 2020 Jan; 129(1):13-19. PubMed ID: 31836396
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.
Arnold GL; Saavedra-Matiz CA; Galvin-Parton PA; Erbe R; Devincentis E; Kronn D; Mofidi S; Wasserstein M; Pellegrino JE; Levy PA; Adams DJ; Nichols M; Caggana M
Mol Genet Metab; 2010 Mar; 99(3):263-8. PubMed ID: 20036593
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]