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Items: 1 to 20 of 202

1.

Lipids detected by brain MRS during coma caused by carnitine palmitoyltransferase 1 deficiency.

Roomets E, Lundbom N, Pihko H, Heikkinen S, Tyni T.

Neurology. 2006 Oct 24;67(8):1516-7. No abstract available.

PMID:
17060594
2.

Hyperlipidaemia due to carnitine palmitoyltransferase I deficiency.

Worthington H, Olpin SE, Blumenthal I, Morris AA.

J Inherit Metab Dis. 2007 Feb;30(1):104. Epub 2006 Dec 11.

PMID:
17160614
3.

Carnitine palmitoyltransferase deficiency: an underdiagnosed condition?

Katzir Z, Hochman B, Biro A, Rubinger DI, Feigel D, Silver J, Friedlaender MM, Popovtzer MM, Smetana S.

Am J Nephrol. 1996;16(2):162-6.

PMID:
8919235
4.

Rapidly fatal hyperammonemic coma in adults. Urea cycle enzyme deficiency.

Wilson BE, Hobbs WN, Newmark JJ, Farrow SJ.

West J Med. 1994 Aug;161(2):166-8. No abstract available.

5.

Defects of beta-oxidation including carnitine deficiency.

Bartlett K, Pourfarzam M.

Int Rev Neurobiol. 2002;53:469-516. Review. No abstract available.

PMID:
12512350
6.

[3-Hydroxy-3-methyl-glutaryl-CoA-lyase deficiency as coma etiology in the neonatal period: case report].

Casella EB, Martins FR, Miura IK, Vieira MA, Porta G.

Arq Neuropsiquiatr. 1998 Sep;56(3A):472-5. Portuguese.

PMID:
9754431
7.

[Changes in carnitine metabolism. A case report about probable partial deficiency of muscle carnitine palmitoyltransferase].

De Prà M, Oberti F, De Benedittis A.

Pediatr Med Chir. 1990 Jul-Aug;12(4):397-403. Review. Italian.

PMID:
2075107
8.

Neonatal carnitine palmitoyltransferase deficiency: a case with a muscular presentation.

Land JM, Mistry S, Squier W, Hope P, Orford M, Saggerson ED.

Prog Clin Biol Res. 1992;375:309-15. No abstract available.

PMID:
1438376
9.

Post-mortem MRI reveals CPT2 deficiency after sudden infant death.

Bouchireb K, Teychene AM, Rigal O, de Lonlay P, Valayannopoulos V, Gaudelus J, Sellier N, Bonnefont JP, Brivet M, de Pontual L.

Eur J Pediatr. 2010 Dec;169(12):1561-3. doi: 10.1007/s00431-010-1261-0. Epub 2010 Jul 27.

PMID:
20661589
10.

Postoperative coma in a child with carnitine palmitoyltransferase I deficiency.

Neuvonen PT, van den Berg AA.

Anesth Analg. 2001 Mar;92(3):646-7.

PMID:
11226093
11.

[Clinical aspects of disorders of lipid metabolism in humans. II. Carnitine palmitoyltransferase deficiency].

Czyzewski K.

Neurol Neurochir Pol. 1988 Nov-Dec;22(6):548-52. Review. Polish. No abstract available.

PMID:
3077435
12.

Carnitine palmityl transferase I deficiency.

Al-Aqeel AI, Rashed MS, Ruiter JP, Al-Husseini HF, Al-Amoudi MS, Wanders RJ.

Saudi Med J. 2001 Nov;22(11):1025-9.

PMID:
11744980
13.

Biochemical and molecular studies of carnitine palmitoyltransferase II deficiency with hepatocardiomyopathic presentation.

Taroni F, Verderio E, Garavaglia B, Fiorucci S, Finocchiaro G, Uziel G, DiDonato S.

Prog Clin Biol Res. 1992;375:521-31. No abstract available.

PMID:
1438396
14.

Carnitine and diseases of skeletal muscle.

[No authors listed]

Nutr Rev. 1979 Jan;37(1):8-10. No abstract available.

PMID:
431900
15.

Acute severe encephalopathy related to human herpesvirus-6 infection in a patient with carnitine palmitoyltransferase 2 deficiency carrying thermolabile variants.

Kobayashi Y, Ishikawa N, Tsumura M, Fujii Y, Okada S, Shigematsu Y, Kobayashi M.

Brain Dev. 2013 May;35(5):449-53. doi: 10.1016/j.braindev.2012.06.013. Epub 2012 Jul 31.

PMID:
22854105
16.
17.

Serious pregnancy complications in a patient with previously undiagnosed carnitine palmitoyltransferase 1 deficiency.

Ylitalo K, Vänttinen T, Halmesmäki E, Tyni T.

Am J Obstet Gynecol. 2005 Jun;192(6):2060-2.

PMID:
15970898
18.

A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency.

Deschauer M, Chrzanowska-Lightowlers ZM, Biekmann E, Pourfarzam M, Taylor RW, Turnbull DM, Zierz S.

Mol Genet Metab. 2003 Jun;79(2):124-8.

PMID:
12809643
19.

[Carnitine palmitoyltransferase I(CPT1) deficiency].

Yorifuji S.

Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):401-2. Review. Japanese. No abstract available.

PMID:
9590082
20.

Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation.

Hogan KJ, Vladutiu GD.

Anesth Analg. 2009 Oct;109(4):1070-2. doi: 10.1213/ane.0b013e3181ad63b4.

PMID:
19762733

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