157 related articles for article (PubMed ID: 12512350)
21. Fatty acid beta-oxidation in peroxisomes and mitochondria: the first, unequivocal evidence for the involvement of carnitine in shuttling propionyl-CoA from peroxisomes to mitochondria.
Jakobs BS; Wanders RJ
Biochem Biophys Res Commun; 1995 Aug; 213(3):1035-41. PubMed ID: 7654220
[TBL] [Abstract][Full Text] [Related]
22. Adult carnitine palmitoyltransferase II deficiency: detection of characteristic carnitine esters in serum by tandem mass spectrometry.
Gempel K; Kottlors M; Jaksch M; Gerbitz KD; Bauer MF
J Inherit Metab Dis; 1999 Dec; 22(8):941-2. PubMed ID: 10604150
[No Abstract] [Full Text] [Related]
23. Mitochondrial myopathies.
DiMauro S; Bonilla E; Zeviani M; Servidei S; DeVivo DC; Schon EA
J Inherit Metab Dis; 1987; 10 Suppl 1():113-28. PubMed ID: 2824920
[TBL] [Abstract][Full Text] [Related]
24. Genetic disorders of carnitine metabolism and their nutritional management.
Kerner J; Hoppel C
Annu Rev Nutr; 1998; 18():179-206. PubMed ID: 9706223
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. [Carnitine deficiency].
Przyrembel H
Ned Tijdschr Geneeskd; 1988 Jun; 132(23):1047-51. PubMed ID: 3386765
[No Abstract] [Full Text] [Related]
27. Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.
Fontaine M; Kim I; Dessein AF; Mention-Mulliez K; Dobbelaere D; Douillard C; Sole G; Schiff M; Jaussaud R; Espil-Taris C; Boutron A; Wuyts W; Acquaviva C; Vianey-Saban C; Roland D; Joncquel-Chevalier Curt M; Vamecq J
Mol Genet Metab; 2018 Apr; 123(4):441-448. PubMed ID: 29478820
[TBL] [Abstract][Full Text] [Related]
28. Lipids detected by brain MRS during coma caused by carnitine palmitoyltransferase 1 deficiency.
Roomets E; Lundbom N; Pihko H; Heikkinen S; Tyni T
Neurology; 2006 Oct; 67(8):1516-7. PubMed ID: 17060594
[No Abstract] [Full Text] [Related]
29. Biochemical and molecular studies of carnitine palmitoyltransferase II deficiency with hepatocardiomyopathic presentation.
Taroni F; Verderio E; Garavaglia B; Fiorucci S; Finocchiaro G; Uziel G; DiDonato S
Prog Clin Biol Res; 1992; 375():521-31. PubMed ID: 1438396
[No Abstract] [Full Text] [Related]
30. Carnitine palmitoyltransferase II deficiency in a prenatal case with polycystic kidney disease-like phenotype.
He Y; Li DZ
Congenit Anom (Kyoto); 2020 Jul; 60(4):131-132. PubMed ID: 31599017
[No Abstract] [Full Text] [Related]
31. Muscular carnitine palmitoyltransferase II deficiency in infancy.
Hurvitz H; Klar A; Korn-Lubetzki I; Wanders RJ; Elpeleg ON
Pediatr Neurol; 2000 Feb; 22(2):148-50. PubMed ID: 10738923
[TBL] [Abstract][Full Text] [Related]
32. [New approaches for the treatment of metabolic myopathies].
Laforêt P; Nicolino M; Eymard B
Rev Neurol (Paris); 2007 Oct; 163(10):930-5. PubMed ID: 18033029
[TBL] [Abstract][Full Text] [Related]
33. Carnitine palmitoyl transferase deficiency in pregnancy--a case report.
Dreval D; Bernstein D; Zakut H
Am J Obstet Gynecol; 1994 May; 170(5 Pt 1):1390-2. PubMed ID: 8178878
[TBL] [Abstract][Full Text] [Related]
34. Acute renal failure due to carnitine palmitoyltransferase II deficiency.
Uzel B; Altiparmak MR; Ataman R; Serdengeçti K
Neth J Med; 2003 Dec; 61(12):417-20. PubMed ID: 15025419
[TBL] [Abstract][Full Text] [Related]
35. Neonatal carnitine palmitoyltransferase-2 deficiency: a case presenting with myopathy.
Land JM; Mistry S; Squier M; Hope P; Ghadiminejad I; Orford M; Saggerson D
Neuromuscul Disord; 1995 Mar; 5(2):129-37. PubMed ID: 7767092
[TBL] [Abstract][Full Text] [Related]
36. Clinical varieties of carnitine and carnitine palmitoyltransferase deficiency.
Angelini C; Trevisan C; Isaya G; Pegolo G; Vergani L
Clin Biochem; 1987 Feb; 20(1):1-7. PubMed ID: 3552320
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. [Lipid storage myopathies--carnitine deficiency, carnitine palmitoyltransferase deficiency, pyruvate decarboxylase deficiency].
Itagaki Y; Nishitani H
Nihon Rinsho; 1990 Jul; 48(7):1510-6. PubMed ID: 2402068
[No Abstract] [Full Text] [Related]
39. Cardiomyopathy in childhood, mitochondrial dysfunction, and the role of L-carnitine.
Winter SC; Buist NR
Am Heart J; 2000 Feb; 139(2 Pt 3):S63-9. PubMed ID: 10650319
[TBL] [Abstract][Full Text] [Related]
40. [Hereditary metabolic muscular diseases caused by demonstrable enzyme defect].
Kuhn E
Dtsch Med Wochenschr; 1980 Oct; 105(42):1469-73. PubMed ID: 6450673
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
