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Results: 1 to 20 of 31

1.

Laryngeal spasm mimicking asthma and vitamin d deficiency.

Masoero M, Bellocchia M, Ciuffreda A, Ricciardolo FL, Rolla G, Bucca C.

Allergy Asthma Immunol Res. 2014 May;6(3):267-9. doi: 10.4168/aair.2014.6.3.267. Epub 2014 Jan 14.

PMID:
24843804
[PubMed]
Free PMC Article
2.

Acute liver failure in a term neonate after repeated paracetamol administration.

Bucaretchi F, Fernandes CB, Branco MM, De Capitani EM, Hyslop S, Caldas JP, Moreno CA, Porta G.

Rev Paul Pediatr. 2014 Mar;32(1):144-8.

PMID:
24676202
[PubMed - in process]
Free PMC Article
3.

Primary carnitine deficiency and cardiomyopathy.

Fu L, Huang M, Chen S.

Korean Circ J. 2013 Dec;43(12):785-92. doi: 10.4070/kcj.2013.43.12.785. Review.

PMID:
24385988
[PubMed]
Free PMC Article
4.

Taking diabetes to heart--deregulation of myocardial lipid metabolism in diabetic cardiomyopathy.

Bayeva M, Sawicki KT, Ardehali H.

J Am Heart Assoc. 2013 Nov 25;2(6):e000433. doi: 10.1161/JAHA.113.000433. Review. No abstract available.

PMID:
24275630
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders.

Ndukwe Erlingsson UC, Iacobazzi F, Liu A, Ardon O, Pasquali M, Longo N.

Biochem Biophys Res Commun. 2013 Aug 9;437(4):637-41. doi: 10.1016/j.bbrc.2013.07.020. Epub 2013 Jul 16.

PMID:
23867825
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Acylcarnitine esters profiling of serum and follicular fluid in patients undergoing in vitro fertilization.

Várnagy A, Bene J, Sulyok E, Kovács GL, Bódis J, Melegh B.

Reprod Biol Endocrinol. 2013 Jul 17;11:67. doi: 10.1186/1477-7827-11-67.

PMID:
23866102
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Quantification of mitochondrial acetylation dynamics highlights prominent sites of metabolic regulation.

Still AJ, Floyd BJ, Hebert AS, Bingman CA, Carson JJ, Gunderson DR, Dolan BK, Grimsrud PA, Dittenhafer-Reed KE, Stapleton DS, Keller MP, Westphall MS, Denu JM, Attie AD, Coon JJ, Pagliarini DJ.

J Biol Chem. 2013 Sep 6;288(36):26209-19. doi: 10.1074/jbc.M113.483396. Epub 2013 Jul 17.

PMID:
23864654
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Evaluation of the child with suspected mitochondrial liver disease.

Molleston JP, Sokol RJ, Karnsakul W, Miethke A, Horslen S, Magee JC, Romero R, Squires RH, Van Hove JL; Childhood Liver Disease Research Education Network (ChiLDREN).

J Pediatr Gastroenterol Nutr. 2013 Sep;57(3):269-76. doi: 10.1097/MPG.0b013e31829ef67a. Review. No abstract available.

PMID:
23783016
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Cardiac magnetic resonance findings in a case of carnitine deficiency.

Ascunce RR, Nayar AC, Phoon CK, Srichai MB.

Tex Heart Inst J. 2013;40(1):104-5. No abstract available.

PMID:
23468586
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency.

Kilic M, Ozgül RK, Coşkun T, Yücel D, Karaca M, Sivri HS, Tokatli A, Sahin M, Karagöz T, Dursun A.

JIMD Rep. 2012;3:17-23. doi: 10.1007/8904_2011_36. Epub 2011 Sep 22.

PMID:
23430869
[PubMed]
Free PMC Article
11.

Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency.

de Boer L, Kluijtmans LA, Morava E.

JIMD Rep. 2013;10:39-40. doi: 10.1007/8904_2012_198. Epub 2012 Dec 29.

PMID:
23430798
[PubMed]
Free PMC Article
12.

Lipid storage myopathy with clinical markers of Marfan syndrome: A rare association.

Ramakrishnan S, Narayanappa G, Christopher R.

Ann Indian Acad Neurol. 2012 Oct;15(4):332-5. doi: 10.4103/0972-2327.104352.

PMID:
23349609
[PubMed]
Free PMC Article
13.

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management.

Magoulas PL, El-Hattab AW.

Orphanet J Rare Dis. 2012 Sep 18;7:68. doi: 10.1186/1750-1172-7-68. Review.

PMID:
22989098
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Long-chain acylcarnitines regulate the hERG channel.

Ferro F, Ouillé A, Tran TA, Fontanaud P, Bois P, Babuty D, Labarthe F, Le Guennec JY.

PLoS One. 2012;7(7):e41686. doi: 10.1371/journal.pone.0041686. Epub 2012 Jul 25.

PMID:
22848566
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Strategies of bacterial over expression of membrane transporters relevant in human health: the successful case of the three members of OCTN subfamily.

Indiveri C, Galluccio M, Scalise M, Pochini L.

Mol Biotechnol. 2013 Jun;54(2):724-36. doi: 10.1007/s12033-012-9586-8. Review.

PMID:
22843325
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Impact of an exercise program on acylcarnitines in obesity: a prospective controlled study.

Rodríguez-Gutiérrez R, Lavalle-González FJ, Martínez-Garza LE, Landeros-Olvera E, López-Alvarenga JC, Torres-Sepúlveda MR, González-González JG, Mancillas-Adame LG, Salazar-Gonzalez B, Villarreal-Pérez JZ.

J Int Soc Sports Nutr. 2012 May 10;9(1):22. doi: 10.1186/1550-2783-9-22.

PMID:
22574901
[PubMed]
Free PMC Article
17.

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.

Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS, Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH Jr, Goin-Kochel RP, Vaz FM, Beaudet AL.

Proc Natl Acad Sci U S A. 2012 May 22;109(21):7974-81. doi: 10.1073/pnas.1120210109. Epub 2012 May 7.

PMID:
22566635
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Transient carnitine transport defect with cholestatic jaundice: report of one case in a premature baby.

Cho HS, Choo YK, Lee HJ, Lee HS.

Korean J Pediatr. 2012 Feb;55(2):58-62. doi: 10.3345/kjp.2012.55.2.58. Epub 2012 Feb 14.

PMID:
22375151
[PubMed]
Free PMC Article
19.

SLC22A5/OCTN2 expression in breast cancer is induced by estrogen via a novel intronic estrogen-response element (ERE).

Wang C, Uray IP, Mazumdar A, Mayer JA, Brown PH.

Breast Cancer Res Treat. 2012 Jul;134(1):101-15. doi: 10.1007/s10549-011-1925-0. Epub 2012 Jan 3.

PMID:
22212555
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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. doi: 10.1002/humu.21607. Epub 2011 Oct 11.

PMID:
21922592
[PubMed - indexed for MEDLINE]
Free PMC Article
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