682 related articles for article (PubMed ID: 30881520)
1. Evaluation of Metabolic Defects in Fatty Acid Oxidation Using Peripheral Blood Mononuclear Cells Loaded with Deuterium-Labeled Fatty Acids.
Yuasa M; Hata I; Sugihara K; Isozaki Y; Ohshima Y; Hara K; Tajima G; Shigematsu Y
Dis Markers; 2019; 2019():2984747. PubMed ID: 30881520
[TBL] [Abstract][Full Text] [Related]
2. Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD.
Elizondo G; Matern D; Vockley J; Harding CO; Gillingham MB
Mol Genet Metab; 2020; 131(1-2):90-97. PubMed ID: 32928639
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study.
Everard E; Laeremans H; Boemer F; Marie S; Vincent MF; Dewulf JP; Debray FG; De Laet C; Nassogne MC
Eur J Paediatr Neurol; 2024 Mar; 49():60-65. PubMed ID: 38377647
[TBL] [Abstract][Full Text] [Related]
5. Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.
Burrage LC; Miller MJ; Wong LJ; Kennedy AD; Sutton VR; Sun Q; Elsea SH; Graham BH
J Pediatr; 2016 Feb; 169():208-13.e2. PubMed ID: 26602010
[TBL] [Abstract][Full Text] [Related]
6. Differences between acylcarnitine profiles in plasma and bloodspots.
de Sain-van der Velden MG; Diekman EF; Jans JJ; van der Ham M; Prinsen BH; Visser G; Verhoeven-Duif NM
Mol Genet Metab; 2013; 110(1-2):116-21. PubMed ID: 23639448
[TBL] [Abstract][Full Text] [Related]
7. Muscle MRI in patients with long-chain fatty acid oxidation disorders.
Diekman EF; van der Pol WL; Nievelstein RA; Houten SM; Wijburg FA; Visser G
J Inherit Metab Dis; 2014 May; 37(3):405-13. PubMed ID: 24305961
[TBL] [Abstract][Full Text] [Related]
8. Serial fatty acid profiles in a preterm infant with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Suganuma H; McPhee AJ; Bratkovic D; Gibson RA; Andersen CC
Pediatr Int; 2019 Apr; 61(4):415-416. PubMed ID: 31025818
[No Abstract] [Full Text] [Related]
9. Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.
Yamada K; Taketani T
J Hum Genet; 2019 Feb; 64(2):73-85. PubMed ID: 30401918
[TBL] [Abstract][Full Text] [Related]
10. Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.
Janzen N; Hofmann AD; Schmidt G; Das AM; Illsinger S
Orphanet J Rare Dis; 2017 Dec; 12(1):187. PubMed ID: 29268767
[TBL] [Abstract][Full Text] [Related]
11. Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects.
Browning MF; Larson C; Strauss A; Marsden DL
J Inherit Metab Dis; 2005; 28(4):545-50. PubMed ID: 15902557
[TBL] [Abstract][Full Text] [Related]
12. Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.
Li H; Fukuda S; Hasegawa Y; Purevsuren J; Kobayashi H; Mushimoto Y; Yamaguchi S
J Chromatogr B Analyt Technol Biomed Life Sci; 2010 Jun; 878(20):1669-72. PubMed ID: 20207594
[TBL] [Abstract][Full Text] [Related]
13. Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders.
Schwantje M; Mosegaard S; Knottnerus SJG; van Klinken JB; Wanders RJ; van Lenthe H; Hermans J; IJlst L; Denis SW; Jaspers YRJ; Fuchs SA; Houtkooper RH; Ferdinandusse S; Vaz FM
FASEB J; 2024 Feb; 38(4):e23478. PubMed ID: 38372965
[TBL] [Abstract][Full Text] [Related]
14. Selective screening for fatty acid oxidation disorders by tandem mass spectrometry: difficulties in practical discrimination.
Shigematsu Y; Hirano S; Hata I; Tanaka Y; Sudo M; Tajima T; Sakura N; Yamaguchi S; Takayanagi M
J Chromatogr B Analyt Technol Biomed Life Sci; 2003 Jul; 792(1):63-72. PubMed ID: 12828998
[TBL] [Abstract][Full Text] [Related]
15. Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children.
Bonnet D; Martin D; Pascale De Lonlay ; Villain E; Jouvet P; Rabier D; Brivet M; Saudubray JM
Circulation; 1999 Nov; 100(22):2248-53. PubMed ID: 10577999
[TBL] [Abstract][Full Text] [Related]
16. Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts.
Roe DS; Yang BZ; Vianey-Saban C; Struys E; Sweetman L; Roe CR
Mol Genet Metab; 2006 Jan; 87(1):40-7. PubMed ID: 16297647
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
Pena LD; van Calcar SC; Hansen J; Edick MJ; Walsh Vockley C; Leslie N; Cameron C; Mohsen AW; Berry SA; Arnold GL; Vockley J;
Mol Genet Metab; 2016 Aug; 118(4):272-81. PubMed ID: 27209629
[TBL] [Abstract][Full Text] [Related]
19. Pharmacological inhibition of carnitine palmitoyltransferase 1 restores mitochondrial oxidative phosphorylation in human trifunctional protein deficient fibroblasts.
Lefort B; Gouache E; Acquaviva C; Tardieu M; Benoist JF; Dumas JF; Servais S; Chevalier S; Vianey-Saban C; Labarthe F
Biochim Biophys Acta Mol Basis Dis; 2017 Jun; 1863(6):1292-1299. PubMed ID: 28392417
[TBL] [Abstract][Full Text] [Related]
20. Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
Lotz-Havla AS; Röschinger W; Schiergens K; Singer K; Karall D; Konstantopoulou V; Wortmann SB; Maier EM
Orphanet J Rare Dis; 2018 Jul; 13(1):122. PubMed ID: 30029694
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
