221 related articles for article (PubMed ID: 10873395)
21. A missense mutation in the OCTN2 gene associated with residual carnitine transport activity.
Wang Y; Kelly MA; Cowan TM; Longo N
Hum Mutat; 2000; 15(3):238-45. PubMed ID: 10679939
[TBL] [Abstract][Full Text] [Related]
22. Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants.
Mak CM; Lam CW; Fong NC; Siu WK; Lee HC; Siu TS; Lai CK; Law CY; Tong SF; Poon WT; Lam DS; Ng HL; Yuen YP; Tam S; Que TL; Kwong NS; Chan AY
J Hum Genet; 2011 Aug; 56(8):617-21. PubMed ID: 21697855
[TBL] [Abstract][Full Text] [Related]
23. Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation.
Spiegel R; Shaag A; Gutman A; Korman SH; Saada A; Elpeleg O; Shalev SA
J Inherit Metab Dis; 2007 Apr; 30(2):266. PubMed ID: 17372854
[TBL] [Abstract][Full Text] [Related]
24. Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.
Isackson PJ; Bennett MJ; Vladutiu GD
Mol Genet Metab; 2006 Dec; 89(4):323-31. PubMed ID: 16996287
[TBL] [Abstract][Full Text] [Related]
25. Disorders of lipid metabolism in muscle.
Di Mauro S; Trevisan C; Hays A
Muscle Nerve; 1980; 3(5):369-88. PubMed ID: 7421873
[TBL] [Abstract][Full Text] [Related]
26. Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency.
Lalani SR; Vladutiu GD; Plunkett K; Lotze TE; Adesina AM; Scaglia F
Arch Neurol; 2005 Feb; 62(2):317-20. PubMed ID: 15710863
[TBL] [Abstract][Full Text] [Related]
27. Selective carnitine palmitoyltransferase deficiency in fibroblasts from a patient with muscle CPT deficiency.
Pula TP; Max SR; Zielke HR; Chacon M; Baab P; Gumbinas M; Reed WD
Ann Neurol; 1981 Aug; 10(2):196-8. PubMed ID: 7283405
[TBL] [Abstract][Full Text] [Related]
28. A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency.
Deschauer M; Wieser T; Schröder R; Zierz S
Mol Genet Metab; 2002 Feb; 75(2):181-5. PubMed ID: 11855939
[TBL] [Abstract][Full Text] [Related]
29. Carnitine palmitoyltransferase deficiency in a college athlete: a case report and literature review.
Faigel HC
J Am Coll Health; 1995 Sep; 44(2):51-4. PubMed ID: 7593992
[TBL] [Abstract][Full Text] [Related]
30. Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA.
Kärppä M; Herva R; Moslemi AR; Oldfors A; Kakko S; Majamaa K
Brain; 2005 Aug; 128(Pt 8):1861-9. PubMed ID: 15857931
[TBL] [Abstract][Full Text] [Related]
31. Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation.
Auré K; Fayet G; Leroy JP; Lacène E; Romero NB; Lombès A
Brain; 2006 May; 129(Pt 5):1249-59. PubMed ID: 16537564
[TBL] [Abstract][Full Text] [Related]
32. Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency.
Corti S; Bordoni A; Ronchi D; Musumeci O; Aguennouz M; Toscano A; Lamperti C; Bresolin N; Comi GP
J Neurol Sci; 2008 Mar; 266(1-2):97-103. PubMed ID: 17936304
[TBL] [Abstract][Full Text] [Related]
33. Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: clinical, biochemical, and genetic features of adult-onset cases.
Kilfoyle D; Hutchinson D; Potter H; George P
N Z Med J; 2005 Feb; 118(1210):U1320. PubMed ID: 15776096
[TBL] [Abstract][Full Text] [Related]
34. Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency triggered by a novel disease-causing mutation del1737C.
Semba S; Yasujima H; Takano T; Yokozaki H
Pathol Int; 2008 Jul; 58(7):436-41. PubMed ID: 18577113
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.
Yang BZ; Ding JH; Dewese T; Roe D; He G; Wilkinson J; Day DW; Demaugre F; Rabier D; Brivet M; Roe C
Mol Genet Metab; 1998 Aug; 64(4):229-36. PubMed ID: 9758712
[TBL] [Abstract][Full Text] [Related]
37. A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance.
Dumoulin R; Sagnol I; Ferlin T; Bozon D; Stepien G; Mousson B
Mol Cell Probes; 1996 Oct; 10(5):389-91. PubMed ID: 8910895
[TBL] [Abstract][Full Text] [Related]
38. Single nucleotide polymorphism in CPT1B and CPT2 genes and its association with blood carnitine levels in acute myocardial infarction patients.
Khan HA; Alhomida AS
Gene; 2013 Jul; 523(1):76-81. PubMed ID: 23566841
[TBL] [Abstract][Full Text] [Related]
39. Noninvasive evaluation of adult onset myopathy from carnitine palmitoyl transferase II deficiency using proton magnetic resonance spectroscopy.
Videen JS; Haseler LJ; Karpinski NC; Terkeltaub RA
J Rheumatol; 1999 Aug; 26(8):1757-63. PubMed ID: 10451074
[TBL] [Abstract][Full Text] [Related]
40. Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.
Prip-Buus C; Thuillier L; Abadi N; Prasad C; Dilling L; Klasing J; Demaugre F; Greenberg CR; Haworth JC; Droin V; Kadhom N; Gobin S; Kamoun P; Girard J; Bonnefont JP
Mol Genet Metab; 2001 May; 73(1):46-54. PubMed ID: 11350182
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]