323 related articles for article (PubMed ID: 25459972)
1. Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response.
Vatanavicharn N; Yamada K; Aoyama Y; Fukao T; Densupsoontorn N; Jirapinyo P; Sathienkijkanchai A; Yamaguchi S; Wasant P
Brain Dev; 2015 Aug; 37(7):698-703. PubMed ID: 25459972
[TBL] [Abstract][Full Text] [Related]
2. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
Iacobazzi V; Invernizzi F; Baratta S; Pons R; Chung W; Garavaglia B; Dionisi-Vici C; Ribes A; Parini R; Huertas MD; Roldan S; Lauria G; Palmieri F; Taroni F
Hum Mutat; 2004 Oct; 24(4):312-20. PubMed ID: 15365988
[TBL] [Abstract][Full Text] [Related]
3. Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia.
Habib A; Azize NAA; Rahman SA; Yakob Y; Suberamaniam V; Nazri MIBA; Abdullah Sani H; Ch'ng GS; Yin LH; Olpin S; Lock-Hock N
Clin Biochem; 2021 Dec; 98():48-53. PubMed ID: 34626609
[TBL] [Abstract][Full Text] [Related]
4. A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency.
Korman SH; Pitt JJ; Boneh A; Dweikat I; Zater M; Meiner V; Gutman A; Brivet M
Mol Genet Metab; 2006 Dec; 89(4):332-8. PubMed ID: 16919490
[TBL] [Abstract][Full Text] [Related]
5. Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.
Fukushima T; Kaneoka H; Yasuno T; Sasaguri Y; Tokuyasu T; Tokoro K; Fukao T; Saito T
J Hum Genet; 2013 Dec; 58(12):788-93. PubMed ID: 24088670
[TBL] [Abstract][Full Text] [Related]
6. Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.
Wang GL; Wang J; Douglas G; Browning M; Hahn S; Ganesh J; Cox S; Aleck K; Schmitt ES; Zhang W; Wong LJ
Mol Genet Metab; 2011 Aug; 103(4):349-57. PubMed ID: 21605995
[TBL] [Abstract][Full Text] [Related]
7. Effect of heat stress and bezafibrate on mitochondrial beta-oxidation: comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay.
Li H; Fukuda S; Hasegawa Y; Kobayashi H; Purevsuren J; Mushimoto Y; Yamaguchi S
Brain Dev; 2010 May; 32(5):362-70. PubMed ID: 19589653
[TBL] [Abstract][Full Text] [Related]
8. [Analysis of four carnitine-acylcarnitine translocase deficiency cases caused by homozygous mutation of SLC25A20 c.199-10T> G].
Fan X; Xie BB; Zhang Q; Yi S; Geng GX; Yang Q; Luo JS; Wang J; Li C; Chen SK; Shen YP
Zhonghua Er Ke Za Zhi; 2018 Jul; 56(7):545-549. PubMed ID: 29996190
[No Abstract] [Full Text] [Related]
9. Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay.
Yamaguchi S; Li H; Purevsuren J; Yamada K; Furui M; Takahashi T; Mushimoto Y; Kobayashi H; Hasegawa Y; Taketani T; Fukao T; Fukuda S
Mol Genet Metab; 2012 Sep; 107(1-2):87-91. PubMed ID: 22841441
[TBL] [Abstract][Full Text] [Related]
10. Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review.
Yan HM; Hu H; Ahmed A; Feng BB; Liu J; Jia ZJ; Wang H
Medicine (Baltimore); 2017 Nov; 96(45):e8549. PubMed ID: 29137068
[TBL] [Abstract][Full Text] [Related]
11. Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: Experience with six patients in Guangdong China.
Tang C; Liu S; Wu M; Lin S; Lin Y; Su L; Zhang J; Feng Y; Huang Y
Clin Chim Acta; 2019 Aug; 495():476-480. PubMed ID: 31108048
[TBL] [Abstract][Full Text] [Related]
12. Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency.
Ogawa A; Yamamoto S; Kanazawa M; Takayanagi M; Hasegawa S; Kohno Y
J Hum Genet; 2000; 45(1):52-5. PubMed ID: 10697964
[TBL] [Abstract][Full Text] [Related]
13. Carnitine-acylcarnitine translocase deficiency: identification of a novel molecular defect in a Bedouin patient.
Galron D; Birk OS; Kazanovitz A; Moses SW; Hershkovitz E
J Inherit Metab Dis; 2004; 27(2):267-73. PubMed ID: 15159657
[TBL] [Abstract][Full Text] [Related]
14. Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects.
Rubio-Gozalbo ME; Bakker JA; Waterham HR; Wanders RJ
Mol Aspects Med; 2004; 25(5-6):521-32. PubMed ID: 15363639
[TBL] [Abstract][Full Text] [Related]
15. Prospective treatment in carnitine-acylcarnitine translocase deficiency.
Pierre G; Macdonald A; Gray G; Hendriksz C; Preece MA; Chakrapani A
J Inherit Metab Dis; 2007 Oct; 30(5):815. PubMed ID: 17508264
[TBL] [Abstract][Full Text] [Related]
16. Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient.
Violante S; Ijlst L; Te Brinke H; Koster J; Tavares de Almeida I; Wanders RJ; Ventura FV; Houten SM
Biochim Biophys Acta; 2013 Sep; 1831(9):1467-74. PubMed ID: 23850792
[TBL] [Abstract][Full Text] [Related]
17. Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family.
Yang BZ; Mallory JM; Roe DS; Brivet M; Strobel GD; Jones KM; Ding JH; Roe CR
Mol Genet Metab; 2001 May; 73(1):64-70. PubMed ID: 11350184
[TBL] [Abstract][Full Text] [Related]
18. Intracellular in vitro probe acylcarnitine assay for identifying deficiencies of carnitine transporter and carnitine palmitoyltransferase-1.
Purevsuren J; Kobayashi H; Hasegawa Y; Yamada K; Takahashi T; Takayanagi M; Fukao T; Fukuda S; Yamaguchi S
Anal Bioanal Chem; 2013 Feb; 405(4):1345-51. PubMed ID: 23143007
[TBL] [Abstract][Full Text] [Related]
19. Efficacy of bezafibrate on fibroblasts of glutaric acidemia type II patients evaluated using an in vitro probe acylcarnitine assay.
Yamada K; Kobayashi H; Bo R; Purevsuren J; Mushimoto Y; Takahashi T; Hasegawa Y; Taketani T; Fukuda S; Yamaguchi S
Brain Dev; 2017 Jan; 39(1):48-57. PubMed ID: 27591119
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
