125 related articles for article (PubMed ID: 11596440)
1. [Familial carnitine deficiency].
Yorifuji S
Ryoikibetsu Shokogun Shirizu; 2001; (36):47-50. PubMed ID: 11596440
[No Abstract] [Full Text] [Related]
2. [Primary carnitine deficiency].
Kuwajima M
Nihon Rinsho; 2002 Apr; 60 Suppl 4():701-5. PubMed ID: 12013977
[No Abstract] [Full Text] [Related]
3. Carnitine transport by organic cation transporters and systemic carnitine deficiency.
Lahjouji K; Mitchell GA; Qureshi IA
Mol Genet Metab; 2001 Aug; 73(4):287-97. PubMed ID: 11509010
[TBL] [Abstract][Full Text] [Related]
4. Primary carnitine deficiency in the Chinese.
Tang NL; Hui J; Law LK; To KF; Cheung KL; Magnus HN; Yuen PM; Fok TF
Chin Med J (Engl); 2000 Apr; 113(4):376-80. PubMed ID: 11775240
[No Abstract] [Full Text] [Related]
5. [Secondary carnitine deficiency].
Kuwajima M
Nihon Rinsho; 2002 Apr; 60 Suppl 4():706-9. PubMed ID: 12013978
[No Abstract] [Full Text] [Related]
6. [Secondary carnitine deficiency].
Yorifuji S
Ryoikibetsu Shokogun Shirizu; 2001; (36):51-3. PubMed ID: 11596448
[No Abstract] [Full Text] [Related]
7. Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency.
Mayatepek E; Nezu J; Tamai I; Oku A; Katsura M; Shimane M; Tsuji A
Hum Mutat; 2000 Jan; 15(1):118. PubMed ID: 10612840
[TBL] [Abstract][Full Text] [Related]
8. [Carnitine transport defect].
Yoshida I
Ryoikibetsu Shokogun Shirizu; 2001; (33):337-8. PubMed ID: 11462463
[No Abstract] [Full Text] [Related]
9. Studies on functional sites of organic cation/carnitine transporter OCTN2 (SLC22A5) using a Ser467Cys mutant protein.
Ohashi R; Tamai I; Inano A; Katsura M; Sai Y; Nezu J; Tsuji A
J Pharmacol Exp Ther; 2002 Sep; 302(3):1286-94. PubMed ID: 12183691
[TBL] [Abstract][Full Text] [Related]
10. A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients.
Tang NL; Hwu WL; Chan RT; Law LK; Fung LM; Zhang WM
Hum Mutat; 2002 Sep; 20(3):232. PubMed ID: 12204000
[TBL] [Abstract][Full Text] [Related]
11. Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescence.
Rijlaarsdam RS; van Spronsen FJ; Bink-Boelkens MT; Reijngoud DJ; Wanders RJ; Niezen-Koning KE; Van der Sluijs FH; Dorland B; Beaufort-Krol GC
Pacing Clin Electrophysiol; 2004 May; 27(5):675-6. PubMed ID: 15125729
[TBL] [Abstract][Full Text] [Related]
12. Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.
Lamhonwah AM; Olpin SE; Pollitt RJ; Vianey-Saban C; Divry P; Guffon N; Besley GT; Onizuka R; De Meirleir LJ; Cvitanovic-Sojat L; Baric I; Dionisi-Vici C; Fumic K; Maradin M; Tein I
Am J Med Genet; 2002 Aug; 111(3):271-84. PubMed ID: 12210323
[TBL] [Abstract][Full Text] [Related]
13. Pharmacological rescue of carnitine transport in primary carnitine deficiency.
Amat di San Filippo C; Pasquali M; Longo N
Hum Mutat; 2006 Jun; 27(6):513-23. PubMed ID: 16652335
[TBL] [Abstract][Full Text] [Related]
14. Abnormal sodium stimulation of carnitine transport in primary carnitine deficiency.
Wang Y; Meadows TA; Longo N
J Biol Chem; 2000 Jul; 275(27):20782-6. PubMed ID: 10783384
[TBL] [Abstract][Full Text] [Related]
15. Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2.
Spiekerkoetter U; Huener G; Baykal T; Demirkol M; Duran M; Wanders R; Nezu J; Mayatepek E
J Inherit Metab Dis; 2003; 26(6):613-5. PubMed ID: 14605509
[TBL] [Abstract][Full Text] [Related]
16. Expression and localization of organic cation/carnitine transporter OCTN2 in Caco-2 cells.
Elimrani I; Lahjouji K; Seidman E; Roy MJ; Mitchell GA; Qureshi I
Am J Physiol Gastrointest Liver Physiol; 2003 May; 284(5):G863-71. PubMed ID: 12684216
[TBL] [Abstract][Full Text] [Related]
17. Organic cation/carnitine transporter family expression patterns in adult murine heart.
Lamhonwah AM; Wong J; Tam C; Mai L; Tein I
Pathol Res Pract; 2009; 205(6):395-402. PubMed ID: 19233567
[TBL] [Abstract][Full Text] [Related]
18. Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy.
Kinali M; Olpin SE; Clayton PT; Daubeney PE; Mercuri E; Manzur AY; Tein I; Leonard J; Muntoni F
Eur J Paediatr Neurol; 2004; 8(4):217-9. PubMed ID: 15261886
[TBL] [Abstract][Full Text] [Related]
19. Expression patterns of the organic cation/carnitine transporter family in adult murine brain.
Lamhonwah AM; Hawkins CE; Tam C; Wong J; Mai L; Tein I
Brain Dev; 2008 Jan; 30(1):31-42. PubMed ID: 17576045
[TBL] [Abstract][Full Text] [Related]
20. Epitope shared by functional variant of organic cation/carnitine transporter, OCTN1, Campylobacter jejuni and Mycobacterium paratuberculosis may underlie susceptibility to Crohn's disease at 5q31.
Lamhonwah AM; Ackerley C; Onizuka R; Tilups A; Lamhonwah D; Chung C; Tao KS; Tellier R; Tein I
Biochem Biophys Res Commun; 2005 Dec; 337(4):1165-75. PubMed ID: 16246312
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
