211 related articles for article (PubMed ID: 18670371)
1. Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan.
Tajima G; Sakura N; Shirao K; Okada S; Tsumura M; Nishimura Y; Ono H; Hasegawa Y; Hata I; Naito E; Yamaguchi S; Shigematsu Y; Kobayashi M
Pediatr Res; 2008 Dec; 64(6):667-72. PubMed ID: 18670371
[TBL] [Abstract][Full Text] [Related]
2. Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: a practical confirmatory test for tandem mass spectrometry newborn screening in Japan.
Tajima G; Sakura N; Yofune H; Nishimura Y; Ono H; Hasegawa Y; Hata I; Kimura M; Yamaguchi S; Shigematsu Y; Kobayashi M
J Chromatogr B Analyt Technol Biomed Life Sci; 2005 Sep; 823(2):122-30. PubMed ID: 16046200
[TBL] [Abstract][Full Text] [Related]
3. Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels.
Liebig M; Schymik I; Mueller M; Wendel U; Mayatepek E; Ruiter J; Strauss AW; Wanders RJ; Spiekerkoetter U
Pediatrics; 2006 Sep; 118(3):1065-9. PubMed ID: 16950999
[TBL] [Abstract][Full Text] [Related]
4. MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency.
Spiekerkoetter U; Sun B; Zytkovicz T; Wanders R; Strauss AW; Wendel U
J Pediatr; 2003 Sep; 143(3):335-42. PubMed ID: 14517516
[TBL] [Abstract][Full Text] [Related]
5. A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis.
Hisahara S; Matsushita T; Furuyama H; Tajima G; Shigematsu Y; Imai T; Shimohama S
Tohoku J Exp Med; 2015 Apr; 235(4):305-10. PubMed ID: 25843429
[TBL] [Abstract][Full Text] [Related]
6. Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry.
Schymik I; Liebig M; Mueller M; Wendel U; Mayatepek E; Strauss AW; Wanders RJ; Spiekerkoetter U
J Pediatr; 2006 Jul; 149(1):128-30. PubMed ID: 16860141
[TBL] [Abstract][Full Text] [Related]
7. Molecular diagnosis for a fatal case of very long-chain acyl-CoA dehydrogenase deficiency in Hong Kong Chinese with a novel mutation: a preventable death by newborn screening.
Siu WK; Mak CM; Siu SL; Siu TS; Pang CY; Lam CW; Kwong NS; Chan AY
Diagn Mol Pathol; 2012 Sep; 21(3):184-7. PubMed ID: 22847164
[TBL] [Abstract][Full Text] [Related]
8. Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing.
Spiekerkoetter U; Haussmann U; Mueller M; ter Veld F; Stehn M; Santer R; Lukacs Z
J Pediatr; 2010 Oct; 157(4):668-73. PubMed ID: 20547398
[TBL] [Abstract][Full Text] [Related]
9. Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.
Wood JC; Magera MJ; Rinaldo P; Seashore MR; Strauss AW; Friedman A
Pediatrics; 2001 Jul; 108(1):E19. PubMed ID: 11433098
[TBL] [Abstract][Full Text] [Related]
10. [Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry].
Han LS; Ye J; Qiu WJ; Gao XL; Wang Y; Jin J; Gu XF
Zhonghua Yi Xue Za Zhi; 2008 Aug; 88(30):2122-6. PubMed ID: 19080473
[TBL] [Abstract][Full Text] [Related]
11. Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry.
Ficicioglu C; Coughlin CR; Bennett MJ; Yudkoff M
J Pediatr; 2010 Mar; 156(3):492-4. PubMed ID: 20056241
[TBL] [Abstract][Full Text] [Related]
12. A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns.
ter Veld F; Mueller M; Kramer S; Haussmann U; Herebian D; Mayatepek E; Laryea MD; Primassin S; Spiekerkoetter U
PLoS One; 2009 Jul; 4(7):e6449. PubMed ID: 19649258
[TBL] [Abstract][Full Text] [Related]
13. Novel mutation of early, perinatal-onset, myopathic-type very-long-chain acyl-CoA dehydrogenase deficiency.
Korematsu S; Kosugi Y; Kumamoto T; Yamaguchi S; Izumi T
Pediatr Neurol; 2009 Aug; 41(2):151-3. PubMed ID: 19589468
[TBL] [Abstract][Full Text] [Related]
14. Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
Laforêt P; Acquaviva-Bourdain C; Rigal O; Brivet M; Penisson-Besnier I; Chabrol B; Chaigne D; Boespflug-Tanguy O; Laroche C; Bedat-Millet AL; Behin A; Delevaux I; Lombès A; Andresen BS; Eymard B; Vianey-Saban C
Neuromuscul Disord; 2009 May; 19(5):324-9. PubMed ID: 19327992
[TBL] [Abstract][Full Text] [Related]
15. Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.
Merritt JL; Vedal S; Abdenur JE; Au SM; Barshop BA; Feuchtbaum L; Harding CO; Hermerath C; Lorey F; Sesser DE; Thompson JD; Yu A
Mol Genet Metab; 2014 Apr; 111(4):484-92. PubMed ID: 24503138
[TBL] [Abstract][Full Text] [Related]
16. Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency.
Yamaguchi S; Indo Y; Coates PM; Hashimoto T; Tanaka K
Pediatr Res; 1993 Jul; 34(1):111-3. PubMed ID: 8356011
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency.
McGoey RR; Marble M
J Pediatr; 2011 Jun; 158(6):1031-2. PubMed ID: 21429517
[TBL] [Abstract][Full Text] [Related]
19. [Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders].
Han LS; Ye J; Qiu WJ; Gao XL; Wang Y; Zhang YJ; Gu XF
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Dec; 24(6):692-5. PubMed ID: 18067086
[TBL] [Abstract][Full Text] [Related]
20. Carnitine supplementation induces acylcarnitine production in tissues of very long-chain acyl-CoA dehydrogenase-deficient mice, without replenishing low free carnitine.
Primassin S; Ter Veld F; Mayatepek E; Spiekerkoetter U
Pediatr Res; 2008 Jun; 63(6):632-7. PubMed ID: 18317232
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]