346 related articles for article (PubMed ID: 10090476)
1. Novel mutations associated with carnitine palmitoyltransferase II deficiency.
Taggart RT; Smail D; Apolito C; Vladutiu GD
Hum Mutat; 1999; 13(3):210-20. PubMed ID: 10090476
[TBL] [Abstract][Full Text] [Related]
2. Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency.
Martín MA; Rubio JC; del Hoyo P; García A; Bustos F; Campos Y; Cabello A; Culebras JM; Arenas J
Hum Mutat; 2000 Jun; 15(6):579-80. PubMed ID: 10862092
[TBL] [Abstract][Full Text] [Related]
3. A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene.
Vladutiu GD; Bennett MJ; Smail D; Wong LJ; Taggart RT; Lindsley HB
Mol Genet Metab; 2000 Jun; 70(2):134-41. PubMed ID: 10873395
[TBL] [Abstract][Full Text] [Related]
4. Carnitine palmitoyltransferase deficiencies.
Bonnefont JP; Demaugre F; Prip-Buus C; Saudubray JM; Brivet M; Abadi N; Thuillier L
Mol Genet Metab; 1999 Dec; 68(4):424-40. PubMed ID: 10607472
[TBL] [Abstract][Full Text] [Related]
5. Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects.
Deschauer M; Wieser T; Zierz S
Arch Neurol; 2005 Jan; 62(1):37-41. PubMed ID: 15642848
[TBL] [Abstract][Full Text] [Related]
6. Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects.
Bonnefont JP; Djouadi F; Prip-Buus C; Gobin S; Munnich A; Bastin J
Mol Aspects Med; 2004; 25(5-6):495-520. PubMed ID: 15363638
[TBL] [Abstract][Full Text] [Related]
7. Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.
Ørngreen MC; Dunø M; Ejstrup R; Christensen E; Schwartz M; Sacchetti M; Vissing J
Ann Neurol; 2005 Jan; 57(1):60-6. PubMed ID: 15622536
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Phenotypic variability among first-degree relatives with carnitine palmitoyltransferase II deficiency.
Vladutiu GD; Bennett MJ; Fisher NM; Smail D; Boriack R; Leddy J; Pendergast DR
Muscle Nerve; 2002 Oct; 26(4):492-8. PubMed ID: 12362414
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients.
Joshi PR; Deschauer M; Zierz S
J Neurol Sci; 2014 Mar; 338(1-2):107-11. PubMed ID: 24398345
[TBL] [Abstract][Full Text] [Related]
13. Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.
Ogawa E; Kanazawa M; Yamamoto S; Ohtsuka S; Ogawa A; Ohtake A; Takayanagi M; Kohno Y
J Hum Genet; 2002; 47(7):342-7. PubMed ID: 12111367
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
Bennett MJ; Boriack RL; Narayan S; Rutledge SL; Raff ML
Mol Genet Metab; 2004 May; 82(1):59-63. PubMed ID: 15110323
[TBL] [Abstract][Full Text] [Related]
16. Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.
Vladutiu GD; Quackenbush EJ; Hainline BE; Albers S; Smail DS; Bennett MJ
J Pediatr; 2002 Nov; 141(5):734-6. PubMed ID: 12410208
[TBL] [Abstract][Full Text] [Related]
17. Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.
Thuillier L; Rostane H; Droin V; Demaugre F; Brivet M; Kadhom N; Prip-Buus C; Gobin S; Saudubray JM; Bonnefont JP
Hum Mutat; 2003 May; 21(5):493-501. PubMed ID: 12673791
[TBL] [Abstract][Full Text] [Related]
18. Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach.
Vekemans BC; Bonnefont JP; Aupetit J; Royer G; Droin V; Attié-Bitach T; Saudubray JM; Thuillier L
Prenat Diagn; 2003 Nov; 23(11):884-7. PubMed ID: 14634971
[TBL] [Abstract][Full Text] [Related]
19. Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency.
Vladutiu GD
Muscle Nerve; 1999 Jul; 22(7):949-51. PubMed ID: 10398218
[TBL] [Abstract][Full Text] [Related]
20. [Molecular analysis of a patient with carnitine palmitoyltransferase II deficiency].
Akanuma J; Wataya K; Matubara Y; Yamamoto T; Kira J; Narisawa K
Rinsho Shinkeigaku; 1997 Jun; 37(6):532-5. PubMed ID: 9366186
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]