249 related articles for article (PubMed ID: 14970748)
1. 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]
2. 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]
3. 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]
4. 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]
5. Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.
Horvath GA; Davidson AG; Stockler-Ipsiroglu SG; Lillquist YP; Waters PJ; Olpin S; Andresen BS; Palaty J; Nelson J; Vallance H
Can J Public Health; 2008; 99(4):276-80. PubMed ID: 18767270
[TBL] [Abstract][Full Text] [Related]
6. 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
Bentler K; Zhai S; Elsbecker SA; Arnold GL; Burton BK; Vockley J; Cameron CA; Hiner SJ; Edick MJ; Berry SA;
Mol Genet Metab; 2016 Sep; 119(1-2):75-82. PubMed ID: 27477829
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
Couce ML; Sánchez-Pintos P; Diogo L; Leão-Teles E; Martins E; Santos H; Bueno MA; Delgado-Pecellín C; Castiñeiras DE; Cocho JA; García-Villoria J; Ribes A; Fraga JM; Rocha H
Orphanet J Rare Dis; 2013 Jul; 8():102. PubMed ID: 23842438
[TBL] [Abstract][Full Text] [Related]
11. Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification.
Ensenauer R; Winters JL; Parton PA; Kronn DF; Kim JW; Matern D; Rinaldo P; Hahn SH
Genet Med; 2005; 7(5):339-43. PubMed ID: 15915086
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: performance improvement by monitoring a new ratio.
Hall PL; Wittenauer A; Hagar A
Mol Genet Metab; 2014 Dec; 113(4):274-7. PubMed ID: 25454677
[TBL] [Abstract][Full Text] [Related]
14. 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]
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. A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.
Jager EA; Kuijpers MM; Bosch AM; Mulder MF; Gozalbo ER; Visser G; de Vries M; Williams M; Waterham HR; van Spronsen FJ; Schielen PCJI; Derks TGJ
J Inherit Metab Dis; 2019 Sep; 42(5):890-897. PubMed ID: 31012112
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.
Van Calcar SC; Baker MW; Williams P; Jones SA; Xiong B; Thao MC; Lee S; Yang MK; Rice GM; Rhead W; Vockley J; Hoffman G; Durkin MS
Mol Genet Metab; 2013; 110(1-2):111-5. PubMed ID: 23712021
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency.
Derks TG; Boer TS; van Assen A; Bos T; Ruiter J; Waterham HR; Niezen-Koning KE; Wanders RJ; Rondeel JM; Loeber JG; Ten Kate LP; Smit GP; Reijngoud DJ
J Inherit Metab Dis; 2008 Feb; 31(1):88-96. PubMed ID: 18188679
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
