380 related articles for article (PubMed ID: 31836396)
1. 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]
2. 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]
3. Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.
Rovelli V; Manzoni F; Viau K; Pasquali M; Longo N
Mol Genet Metab; 2019 May; 127(1):64-73. PubMed ID: 31031081
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
Gallant NM; Leydiker K; Tang H; Feuchtbaum L; Lorey F; Puckett R; Deignan JL; Neidich J; Dorrani N; Chang E; Barshop BA; Cederbaum SD; Abdenur JE; Wang RY
Mol Genet Metab; 2012 May; 106(1):55-61. PubMed ID: 22424739
[TBL] [Abstract][Full Text] [Related]
7. Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.
Tajima G; Hara K; Tsumura M; Kagawa R; Okada S; Sakura N; Hata I; Shigematsu Y; Kobayashi M
Mol Genet Metab; 2016 Dec; 119(4):322-328. PubMed ID: 27856190
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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]
12. Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.
Smon A; Groselj U; Debeljak M; Zerjav Tansek M; Bertok S; Avbelj Stefanija M; Trebusak Podkrajsek K; Battelino T; Repic Lampret B
J Int Med Res; 2018 Apr; 46(4):1339-1348. PubMed ID: 29350094
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.
Touw CM; Smit GP; de Vries M; de Klerk JB; Bosch AM; Visser G; Mulder MF; Rubio-Gozalbo ME; Elvers B; Niezen-Koning KE; Wanders RJ; Waterham HR; Reijngoud DJ; Derks TG
Orphanet J Rare Dis; 2012 May; 7():30. PubMed ID: 22630369
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.
Weiss KJ; Berger U; Haider M; Wagner M; Märtner EMC; Regenauer-Vandewiele S; Lotz-Havla A; Schuhmann E; Röschinger W; Maier EM
Clin Genet; 2023 Jun; 103(6):644-654. PubMed ID: 36840705
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.
Ventura FV; Leandro P; Luz A; Rivera IA; Silva MF; Ramos R; Rocha H; Lopes A; Fonseca H; Gaspar A; Diogo L; Martins E; Leão-Teles E; Vilarinho L; Tavares de Almeida I
Clin Genet; 2014 Jun; 85(6):555-61. PubMed ID: 23829193
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
