199 related articles for article (PubMed ID: 23430869)
21. SLC22A5 Mutations in a Patient With Systemic Primary Carnitine Deficiency and Cleft Palate-Successful Perioperative Management.
Hu CW; Hu CH; Wu-Chou YH; Lo LJ
J Craniofac Surg; 2018 Sep; 29(6):1601-1603. PubMed ID: 29750726
[TBL] [Abstract][Full Text] [Related]
22. Pharmacological and pathophysiological roles of carnitine/organic cation transporters (OCTNs: SLC22A4, SLC22A5 and Slc22a21).
Tamai I
Biopharm Drug Dispos; 2013 Jan; 34(1):29-44. PubMed ID: 22952014
[TBL] [Abstract][Full Text] [Related]
23. Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype.
Shibbani K; Fahed AC; Al-Shaar L; Arabi M; Nemer G; Bitar F; Majdalani M
Clin Genet; 2014 Feb; 85(2):127-37. PubMed ID: 23379544
[TBL] [Abstract][Full Text] [Related]
24. Pressure overload-induced cardiomyopathy in heterozygous carrier mice of carnitine transporter gene mutation.
Takahashi R; Asai T; Murakami H; Murakami R; Tsuzuki M; Numaguchi Y; Matsui H; Murohara T; Okumura K
Hypertension; 2007 Sep; 50(3):497-502. PubMed ID: 17664396
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up.
Yilmaz BS; Kor D; Mungan NO; Erdem S; Ceylaner S
J Pediatr Endocrinol Metab; 2015 Sep; 28(9-10):1179-81. PubMed ID: 26030785
[TBL] [Abstract][Full Text] [Related]
27. Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).
Urban TJ; Gallagher RC; Brown C; Castro RA; Lagpacan LL; Brett CM; Taylor TR; Carlson EJ; Ferrin TE; Burchard EG; Packman S; Giacomini KM
Mol Pharmacol; 2006 Nov; 70(5):1602-11. PubMed ID: 16931768
[TBL] [Abstract][Full Text] [Related]
28. [Mutational analysis of SLC22A5 gene in eight patients with systemic primary carnitine deficiency].
Lin Y; Lin W; Yu K; Zheng F; Zheng Z; Fu Q
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Feb; 34(1):35-39. PubMed ID: 28186590
[TBL] [Abstract][Full Text] [Related]
29. Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.
Dobrowolski SF; McKinney JT; Amat di San Filippo C; Giak Sim K; Wilcken B; Longo N
Hum Mutat; 2005 Mar; 25(3):306-13. PubMed ID: 15714519
[TBL] [Abstract][Full Text] [Related]
30. Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency.
Hwu WL; Chien YH; Tang NL; Law LK; Lin CY; Lee NC
J Inherit Metab Dis; 2007 Oct; 30(5):816. PubMed ID: 17703373
[TBL] [Abstract][Full Text] [Related]
31. Dilated Cardiomyopathy as the Only Clinical Manifestation of Carnitine Transporter Deficiency.
Papadopoulou-Legbelou K; Gogou M; Dokousli V; Eboriadou M; Evangeliou A
Indian J Pediatr; 2017 Mar; 84(3):231-233. PubMed ID: 27807682
[TBL] [Abstract][Full Text] [Related]
32. Cardiomyopathy and carnitine deficiency.
Amat di San Filippo C; Taylor MR; Mestroni L; Botto LD; Longo N
Mol Genet Metab; 2008 Jun; 94(2):162-6. PubMed ID: 18337137
[TBL] [Abstract][Full Text] [Related]
33. Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.
Tang NL; Ganapathy V; Wu X; Hui J; Seth P; Yuen PM; Wanders RJ; Fok TF; Hjelm NM
Hum Mol Genet; 1999 Apr; 8(4):655-60. PubMed ID: 10072434
[TBL] [Abstract][Full Text] [Related]
34. Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.
Vaz FM; Scholte HR; Ruiter J; Hussaarts-Odijk LM; Pereira RR; Schweitzer S; de Klerk JB; Waterham HR; Wanders RJ
Hum Genet; 1999; 105(1-2):157-61. PubMed ID: 10480371
[TBL] [Abstract][Full Text] [Related]
35. [Genetics and pedigree analysis of primary carnitine deficiency cardiomyopathy in 6 cases].
Rao J; Zeng G; Wang S; Zhang Z; Li Y; Zhang C
Zhonghua Er Ke Za Zhi; 2014 Jul; 52(7):544-7. PubMed ID: 25224063
[TBL] [Abstract][Full Text] [Related]
36. Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China.
Chang S; Yang Y; Xu F; Ji W; Zhan X; Gao X; Chen T; Qiu W; Zhang H; Liang L; Lu D; Zhang K; Gu X; Han L
Front Genet; 2022; 13():1062715. PubMed ID: 36568374
[No Abstract] [Full Text] [Related]
37. Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.
Makhseed N; Vallance HD; Potter M; Waters PJ; Wong LT; Lillquist Y; Pasquali M; Amat di San Filippo C; Longo N
J Inherit Metab Dis; 2004; 27(6):778-80. PubMed ID: 15617188
[TBL] [Abstract][Full Text] [Related]
38. Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
Li FY; El-Hattab AW; Bawle EV; Boles RG; Schmitt ES; Scaglia F; Wong LJ
Hum Mutat; 2010 Aug; 31(8):E1632-51. PubMed ID: 20574985
[TBL] [Abstract][Full Text] [Related]
39. Phenotypic manifestations of the OCTN2 V295X mutation: sudden infant death and carnitine-responsive cardiomyopathy in Roma families.
Melegh B; Bene J; Mogyorósy G; Havasi V; Komlósi K; Pajor L; Oláh E; Kispál G; Sumegi B; Méhes K
Am J Med Genet A; 2004 Dec; 131(2):121-6. PubMed ID: 15487009
[TBL] [Abstract][Full Text] [Related]
40. Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality.
Burwinkel B; Kreuder J; Schweitzer S; Vorgerd M; Gempel K; Gerbitz KD; Kilimann MW
Biochem Biophys Res Commun; 1999 Aug; 261(2):484-7. PubMed ID: 10425211
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
