240 related articles for article (PubMed ID: 24398345)
1. 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]
2. 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]
3. Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.
Lehmann D; Motlagh L; Robaa D; Zierz S
Int J Mol Sci; 2017 Jan; 18(1):. PubMed ID: 28054946
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.
Joshi PR; Zierz S
Molecules; 2020 Apr; 25(8):. PubMed ID: 32295037
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Normal protein content but abnormally inhibited enzyme activity in muscle carnitine palmitoyltransferase II deficiency.
Lehmann D; Zierz S
J Neurol Sci; 2014 Apr; 339(1-2):183-8. PubMed ID: 24602495
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
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. Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency.
Anichini A; Fanin M; Vianey-Saban C; Cassandrini D; Fiorillo C; Bruno C; Angelini C
Neurol Res; 2011 Jan; 33(1):24-32. PubMed ID: 20810031
[TBL] [Abstract][Full Text] [Related]
12. Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.
Fanin M; Anichini A; Cassandrini D; Fiorillo C; Scapolan S; Minetti C; Cassanello M; Donati MA; Siciliano G; D'Amico A; Lilliu F; Bruno C; Angelini C
Clin Genet; 2012 Sep; 82(3):232-9. PubMed ID: 21913903
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. A novel mutation identified in carnitine palmitoyltransferase II deficiency.
Yang BZ; Ding JH; Roe D; Dewese T; Day DW; Roe CR
Mol Genet Metab; 1998 Feb; 63(2):110-5. PubMed ID: 9562964
[TBL] [Abstract][Full Text] [Related]
15. Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.
Olpin SE; Afifi A; Clark S; Manning NJ; Bonham JR; Dalton A; Leonard JV; Land JM; Andresen BS; Morris AA; Muntoni F; Turnbull D; Pourfarzam M; Rahman S; Pollitt RJ
J Inherit Metab Dis; 2003; 26(6):543-57. PubMed ID: 14605500
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria.
Bruno C; Bado M; Minetti C; Cordone G; DiMauro S
J Child Neurol; 2000 Jun; 15(6):390-3. PubMed ID: 10868782
[TBL] [Abstract][Full Text] [Related]
18. Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency.
Yasuno T; Kaneoka H; Tokuyasu T; Aoki J; Yoshida S; Takayanagi M; Ohtake A; Kanazawa M; Ogawa A; Tojo K; Saito T
Clin Genet; 2008 May; 73(5):496-501. PubMed ID: 18363739
[TBL] [Abstract][Full Text] [Related]
19. Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.
Wataya K; Akanuma J; Cavadini P; Aoki Y; Kure S; Invernizzi F; Yoshida I; Kira J; Taroni F; Matsubara Y; Narisawa K
Hum Mutat; 1998; 11(5):377-86. PubMed ID: 9600456
[TBL] [Abstract][Full Text] [Related]
20. A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency.
Deschauer M; Chrzanowska-Lightowlers ZM; Biekmann E; Pourfarzam M; Taylor RW; Turnbull DM; Zierz S
Mol Genet Metab; 2003 Jun; 79(2):124-8. PubMed ID: 12809643
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
