355 related articles for article (PubMed ID: 23842438)
1. 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]
2. The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario.
Kennedy S; Potter BK; Wilson K; Fisher L; Geraghty M; Milburn J; Chakraborty P
BMC Pediatr; 2010 Nov; 10():82. PubMed ID: 21083904
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants.
Khalid JM; Oerton J; Cortina-Borja M; Andresen BS; Besley G; Dalton RN; Downing M; Green A; Henderson M; Leonard J; Dezateux C;
J Med Screen; 2008; 15(3):112-7. PubMed ID: 18927092
[TBL] [Abstract][Full Text] [Related]
8. Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.
Rücklová K; Hrubá E; Pavlíková M; Hanák P; Farolfi M; Chrastina P; Vlášková H; Kousal B; Smolka V; Foltenová H; Adam T; Friedecký D; Ješina P; Zeman J; Kožich V; Honzík T
Nutrients; 2021 Aug; 13(9):. PubMed ID: 34578803
[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. Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.
Janeiro P; Jotta R; Ramos R; Florindo C; Ventura FV; Vilarinho L; Tavares de Almeida I; Gaspar A
Eur J Pediatr; 2019 Mar; 178(3):387-394. PubMed ID: 30617651
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population.
Li YY; Xu J; Sun XC; Li HY; Mu K
J Pediatr Endocrinol Metab; 2022 Oct; 35(10):1264-1271. PubMed ID: 36068006
[TBL] [Abstract][Full Text] [Related]
14. Sequencing from dried blood spots in infants with "false positive" newborn screen for MCAD deficiency.
McCandless SE; Chandrasekar R; Linard S; Kikano S; Rice L
Mol Genet Metab; 2013 Jan; 108(1):51-5. PubMed ID: 23151387
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. [Screening for fatty acid oxidation disorders of newborns in Zhejiang province:prevalence, outcome and follow-up].
Zheng J; Zhang Y; Hong F; Yang J; Tong F; Mao H; Huang X; Zhou X; Yang R; Zhao Z; Huang X
Zhejiang Da Xue Xue Bao Yi Xue Ban; 2017 May; 46(3):248-255. PubMed ID: 29039165
[TBL] [Abstract][Full Text] [Related]
17. Genetic characteristics and follow-up of patients with fatty acid β-oxidation disorders through expanded newborn screening in a Northern Chinese population.
Wang S; Leng J; Diao C; Wang Y; Zheng R
J Pediatr Endocrinol Metab; 2020 May; 33(6):683-690. PubMed ID: 32447334
[TBL] [Abstract][Full Text] [Related]
18. Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency.
Woo HI; Park HD; Lee YW; Lee DH; Ki CS; Lee SY; Kim JW
Korean J Lab Med; 2011 Jan; 31(1):54-60. PubMed ID: 21239873
[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. Acylcarnitine profiles during carnitine loading and fasting tests in a Japanese patient with medium-chain acyl-CoA dehydrogenase deficiency.
Yokoi K; Ito T; Maeda Y; Nakajima Y; Ueta A; Nomura T; Koyama N; Kato I; Suzuki S; Kurono Y; Sugiyama N; Togari H
Tohoku J Exp Med; 2007 Dec; 213(4):351-9. PubMed ID: 18075239
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
