482 related articles for article (PubMed ID: 31500110)
1. Carnitine Inborn Errors of Metabolism.
Almannai M; Alfadhel M; El-Hattab AW
Molecules; 2019 Sep; 24(18):. PubMed ID: 31500110
[TBL] [Abstract][Full Text] [Related]
2. Significance of l-carnitine for human health.
Adeva-Andany MM; Calvo-Castro I; Fernández-Fernández C; Donapetry-García C; Pedre-Piñeiro AM
IUBMB Life; 2017 Aug; 69(8):578-594. PubMed ID: 28653367
[TBL] [Abstract][Full Text] [Related]
3. Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle.
Longo N
Ann Nutr Metab; 2016; 68 Suppl 3():5-9. PubMed ID: 27931018
[TBL] [Abstract][Full Text] [Related]
4. [Carnitine - mitochondria and beyond].
Nałęcz KA; Nałęcz MJ
Postepy Biochem; 2016; 62(2):85-93. PubMed ID: 28132459
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. L-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency.
Madsen KL; Preisler N; Rasmussen J; Hedermann G; Olesen JH; Lund AM; Vissing J
J Clin Endocrinol Metab; 2018 Dec; 103(12):4580-4588. PubMed ID: 30219858
[TBL] [Abstract][Full Text] [Related]
7. State of the art in muscle lipid diseases.
Liang WC; Nishino I
Acta Myol; 2010 Oct; 29(2):351-6. PubMed ID: 21314018
[TBL] [Abstract][Full Text] [Related]
8. A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency.
Ferdinandusse S; Te Brinke H; Ruiter JPN; Haasjes J; Oostheim W; van Lenthe H; IJlst L; Ebberink MS; Wanders RJA; Vaz FM; Waterham HR
Hum Mutat; 2019 Oct; 40(10):1899-1904. PubMed ID: 31187905
[TBL] [Abstract][Full Text] [Related]
9. Disorders of carnitine biosynthesis and transport.
El-Hattab AW; Scaglia F
Mol Genet Metab; 2015 Nov; 116(3):107-12. PubMed ID: 26385306
[TBL] [Abstract][Full Text] [Related]
10. Genotype-phenotype correlation in primary carnitine deficiency.
Rose EC; di San Filippo CA; Ndukwe Erlingsson UC; Ardon O; Pasquali M; Longo N
Hum Mutat; 2012 Jan; 33(1):118-23. PubMed ID: 21922592
[TBL] [Abstract][Full Text] [Related]
11. Functional and molecular studies in primary carnitine deficiency.
Frigeni M; Balakrishnan B; Yin X; Calderon FRO; Mao R; Pasquali M; Longo N
Hum Mutat; 2017 Dec; 38(12):1684-1699. PubMed ID: 28841266
[TBL] [Abstract][Full Text] [Related]
12. Genetic characteristics and follow-up of patients with fatty acid β-oxidation disorders through expanded newborn screening in a Northern Chinese population.
Wang S; Leng J; Diao C; Wang Y; Zheng R
J Pediatr Endocrinol Metab; 2020 May; 33(6):683-690. PubMed ID: 32447334
[TBL] [Abstract][Full Text] [Related]
13. Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening.
Verbeeten KC; Lamhonwah AM; Bulman D; Faghfoury H; Chakraborty P; Tein I; Geraghty MT
Mol Genet Metab; 2020 Mar; 129(3):213-218. PubMed ID: 31864849
[TBL] [Abstract][Full Text] [Related]
14. Enzymes involved in L-carnitine biosynthesis are expressed by small intestinal enterocytes in mice: implications for gut health.
Shekhawat PS; Sonne S; Carter AL; Matern D; Ganapathy V
J Crohns Colitis; 2013 Jul; 7(6):e197-205. PubMed ID: 22999781
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Carnitine--metabolism and functions.
Bremer J
Physiol Rev; 1983 Oct; 63(4):1420-80. PubMed ID: 6361812
[TBL] [Abstract][Full Text] [Related]
17. Carnitine deficiency.
Gilbert EF
Pathology; 1985 Apr; 17(2):161-71. PubMed ID: 3900894
[TBL] [Abstract][Full Text] [Related]
18. Peroxisome proliferator-activated receptor alpha and enzymes of carnitine biosynthesis in the liver are down-regulated during lactation in rats.
Gutgesell A; Ringseis R; Brandsch C; Stangl GI; Hirche F; Eder K
Metabolism; 2009 Feb; 58(2):226-32. PubMed ID: 19154956
[TBL] [Abstract][Full Text] [Related]
19. The mouse gene encoding the carnitine biosynthetic enzyme 4-N-trimethylaminobutyraldehyde dehydrogenase is regulated by peroxisome proliferator-activated receptor α.
Wen G; Ringseis R; Rauer C; Eder K
Biochim Biophys Acta; 2012 May; 1819(5):357-65. PubMed ID: 22285688
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
