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Results: 1 to 20 of 366

1.

Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening.

Illsinger S, Lücke T, Peter M, Ruiter JP, Wanders RJ, Deschauer M, Handig I, Wuyts W, Das AM.

Am J Med Genet A. 2008 Nov 15;146A(22):2925-8. doi: 10.1002/ajmg.a.32545.

PMID:
18925671
[PubMed - indexed for MEDLINE]
2.

Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.

Wood JC, Magera MJ, Rinaldo P, Seashore MR, Strauss AW, Friedman A.

Pediatrics. 2001 Jul;108(1):E19.

PMID:
11433098
[PubMed - indexed for MEDLINE]
3.

Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency.

Korman SH, Waterham HR, Gutman A, Jakobs C, Wanders RJ.

Mol Genet Metab. 2005 Nov;86(3):337-43. Epub 2005 Sep 16.

PMID:
16146704
[PubMed - indexed for MEDLINE]
4.

Novel mutations associated with carnitine palmitoyltransferase II deficiency.

Taggart RT, Smail D, Apolito C, Vladutiu GD.

Hum Mutat. 1999;13(3):210-20.

PMID:
10090476
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
15365988
[PubMed - indexed for MEDLINE]
6.

Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific.

Fingerhut R, Röschinger W, Muntau AC, Dame T, Kreischer J, Arnecke R, Superti-Furga A, Troxler H, Liebl B, Olgemöller B, Roscher AA.

Clin Chem. 2001 Oct;47(10):1763-8.

PMID:
11568084
[PubMed - indexed for MEDLINE]
Free Article
7.

Disorders of the carnitine cycle and detection by newborn screening.

Wilcken B.

Ann Acad Med Singapore. 2008 Dec;37(12 Suppl):71-3.

PMID:
19904456
[PubMed - indexed for MEDLINE]
8.

Metabolic studies in a patient with severe carnitine palmitoyltransferase type II deficiency.

Fontaine M, Briand G, Largillière C, Degand P, Divry P, Vianey-Saban C, Mousson B, Vamecq J.

Clin Chim Acta. 1998 May 25;273(2):161-70.

PMID:
9657346
[PubMed - indexed for MEDLINE]
9.

Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death.

Yahyaoui R, Espinosa MG, Gómez C, Dayaldasani A, Rueda I, Roldán A, Ugarte M, Lastra G, Pérez V.

Mol Genet Metab. 2011 Nov;104(3):414-6. doi: 10.1016/j.ymgme.2011.05.003. Epub 2011 May 12.

PMID:
21641254
[PubMed - indexed for MEDLINE]
10.

Carnitine palmitoyltransferase 2 deficiency: the time-course of blood and urinary acylcarnitine levels during initial L-carnitine supplementation.

Hori T, Fukao T, Kobayashi H, Teramoto T, Takayanagi M, Hasegawa Y, Yasuno T, Yamaguchi S, Kondo N.

Tohoku J Exp Med. 2010 Jul;221(3):191-5.

PMID:
20543534
[PubMed - indexed for MEDLINE]
Free Article
11.

Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children.

Bonnet D, Martin D, Pascale De Lonlay, Villain E, Jouvet P, Rabier D, Brivet M, Saudubray JM.

Circulation. 1999 Nov 30;100(22):2248-53.

PMID:
10577999
[PubMed - indexed for MEDLINE]
Free Article
12.

Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency triggered by a novel disease-causing mutation del1737C.

Semba S, Yasujima H, Takano T, Yokozaki H.

Pathol Int. 2008 Jul;58(7):436-41. doi: 10.1111/j.1440-1827.2008.02250.x.

PMID:
18577113
[PubMed - indexed for MEDLINE]
13.

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. Epub 2007 May 12.

PMID:
17508264
[PubMed - indexed for MEDLINE]
14.

Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification.

Ensenauer R, Winters JL, Parton PA, Kronn DF, Kim JW, Matern D, Rinaldo P, Hahn SH.

Genet Med. 2005 May-Jun;7(5):339-43.

PMID:
15915086
[PubMed - indexed for MEDLINE]
15.

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. Epub 2006 Aug 17.

PMID:
16919490
[PubMed - indexed for MEDLINE]
16.

Carnitine palmitoyltransferase 2: New insights on the substrate specificity and implications for acylcarnitine profiling.

Violante S, Ijlst L, van Lenthe H, de Almeida IT, Wanders RJ, Ventura FV.

Biochim Biophys Acta. 2010 Sep;1802(9):728-32. doi: 10.1016/j.bbadis.2010.06.002. Epub 2010 Jun 9.

PMID:
20538056
[PubMed - indexed for MEDLINE]
Free Article
17.

Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects.

Rubio-Gozalbo ME, Bakker JA, Waterham HR, Wanders RJ.

Mol Aspects Med. 2004 Oct-Dec;25(5-6):521-32. Review.

PMID:
15363639
[PubMed - indexed for MEDLINE]
18.

Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle.

Röschinger W, Muntau AC, Duran M, Dorland L, IJlst L, Wanders RJ, Roscher AA.

Clin Chim Acta. 2000 Aug;298(1-2):55-68.

PMID:
10876004
[PubMed - indexed for MEDLINE]
19.

Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation.

Spiegel R, Shaag A, Gutman A, Korman SH, Saada A, Elpeleg O, Shalev SA.

J Inherit Metab Dis. 2007 Apr;30(2):266. Epub 2007 Feb 15.

PMID:
17372854
[PubMed - indexed for MEDLINE]
20.

Carnitine deficiency disorders in children.

Stanley CA.

Ann N Y Acad Sci. 2004 Nov;1033:42-51. Review.

PMID:
15591002
[PubMed - indexed for MEDLINE]

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