239 related articles for article (PubMed ID: 8133663)
1. The changing face of disorders of fatty acid oxidation.
Vockley J
Mayo Clin Proc; 1994 Mar; 69(3):249-57. PubMed ID: 8133663
[TBL] [Abstract][Full Text] [Related]
2. Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
Zytkovicz TH; Fitzgerald EF; Marsden D; Larson CA; Shih VE; Johnson DM; Strauss AW; Comeau AM; Eaton RB; Grady GF
Clin Chem; 2001 Nov; 47(11):1945-55. PubMed ID: 11673361
[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. New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency.
Stanley CA
Adv Pediatr; 1987; 34():59-88. PubMed ID: 3318304
[TBL] [Abstract][Full Text] [Related]
5. Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening.
Spiekerkoetter U
J Inherit Metab Dis; 2010 Oct; 33(5):527-32. PubMed ID: 20449660
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Disorders of fatty acid oxidation.
Tein I
Handb Clin Neurol; 2013; 113():1675-88. PubMed ID: 23622388
[TBL] [Abstract][Full Text] [Related]
8. Role of carnitine and fatty acid oxidation and its defects in infantile epilepsy.
Tein I
J Child Neurol; 2002 Dec; 17 Suppl 3():3S57-82; discussion 3S82-3. PubMed ID: 12597056
[TBL] [Abstract][Full Text] [Related]
9. Screening for newborn fatty acid oxidation disorders in Chongqing and the follow-up of confirmed children.
Chen M; Yin Y; Liu H; Peng Y; Ye L; Luo Q; Miao J
Zhejiang Da Xue Xue Bao Yi Xue Ban; 2022 Jun; 51(3):290-297. PubMed ID: 36207828
[TBL] [Abstract][Full Text] [Related]
10. Disorders of mitochondrial long-chain fatty acid oxidation.
Pollitt RJ
J Inherit Metab Dis; 1995; 18(4):473-90. PubMed ID: 7494405
[TBL] [Abstract][Full Text] [Related]
11. Diagnosis of mitochondrial fatty acid oxidation defects.
Duran M; Bruinvis L; Ketting D; Dorland L
Padiatr Padol; 1993; 28(1):19-25. PubMed ID: 8446424
[TBL] [Abstract][Full Text] [Related]
12. Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening.
Leydiker KB; Neidich JA; Lorey F; Barr EM; Puckett RL; Lobo RM; Abdenur JE
Mol Genet Metab; 2011 May; 103(1):92-5. PubMed ID: 21354840
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Han LS; Ye J; Qiu WJ; Gao XL; Wang Y; Gu XF
J Inherit Metab Dis; 2007 Aug; 30(4):507-14. PubMed ID: 17347912
[TBL] [Abstract][Full Text] [Related]
15. Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop.
Spiekerkoetter U; Lindner M; Santer R; Grotzke M; Baumgartner MR; Boehles H; Das A; Haase C; Hennermann JB; Karall D; de Klerk H; Knerr I; Koch HG; Plecko B; Röschinger W; Schwab KO; Scheible D; Wijburg FA; Zschocke J; Mayatepek E; Wendel U
J Inherit Metab Dis; 2009 Aug; 32(4):498-505. PubMed ID: 19452263
[TBL] [Abstract][Full Text] [Related]
16. Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop.
Spiekerkoetter U; Lindner M; Santer R; Grotzke M; Baumgartner MR; Boehles H; Das A; Haase C; Hennermann JB; Karall D; de Klerk H; Knerr I; Koch HG; Plecko B; Röschinger W; Schwab KO; Scheible D; Wijburg FA; Zschocke J; Mayatepek E; Wendel U
J Inherit Metab Dis; 2009 Aug; 32(4):488-97. PubMed ID: 19399638
[TBL] [Abstract][Full Text] [Related]
17. Disorders of mitochondrial fatty acyl-CoA beta-oxidation.
Wanders RJ; Vreken P; den Boer ME; Wijburg FA; van Gennip AH; IJlst L
J Inherit Metab Dis; 1999 Jun; 22(4):442-87. PubMed ID: 10407780
[TBL] [Abstract][Full Text] [Related]
18. Defects of mitochondrial beta-oxidation: a growing group of disorders.
Vockley J; Whiteman DA
Neuromuscul Disord; 2002 Mar; 12(3):235-46. PubMed ID: 11801395
[TBL] [Abstract][Full Text] [Related]
19. A neonatal death due to medium-chain acyl-CoA dehydrogenase deficiency: utilization of the neonatal metabolic screen in a functional approach to sudden unexplained infant death.
Manoukian AA; Ha CE; Seaver LH; Bhagavan NV
Am J Forensic Med Pathol; 2009 Sep; 30(3):284-6. PubMed ID: 19696588
[TBL] [Abstract][Full Text] [Related]
20. [Study of the inborn errors of mitochondrial fatty acid beta-oxidation deficiency].
Zhu JM; Yang Z
Beijing Da Xue Xue Bao Yi Xue Ban; 2006 Apr; 38(2):214-7. PubMed ID: 16617370
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]