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Items: 1 to 20 of 26

1.

Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands.

Rasmussen J, Nielsen OW, Janzen N, Duno M, Gislason H, Køber L, Steuerwald U, Lund AM.

J Inherit Metab Dis. 2014 Mar;37(2):215-22. doi: 10.1007/s10545-013-9606-2. Epub 2013 May 8. Erratum in: J Inherit Metab Dis. 2014 Jul;37(4):657. Gislason, Hannes [added].

PMID:
23653224
2.

Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report.

De Biase I, Champaigne NL, Schroer R, Pollard LM, Longo N, Wood T.

JIMD Rep. 2012;2:87-90. doi: 10.1007/8904_2011_52. Epub 2011 Sep 6.

3.

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.

4.

Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.

Li FY, El-Hattab AW, Bawle EV, Boles RG, Schmitt ES, Scaglia F, Wong LJ.

Hum Mutat. 2010 Aug;31(8):E1632-51. doi: 10.1002/humu.21311.

PMID:
20574985
5.

Role of carnitine in disease.

Flanagan JL, Simmons PA, Vehige J, Willcox MD, Garrett Q.

Nutr Metab (Lond). 2010 Apr 16;7:30. doi: 10.1186/1743-7075-7-30.

6.

Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.

Lee NC, Tang NL, Chien YH, Chen CA, Lin SJ, Chiu PC, Huang AC, Hwu WL.

Mol Genet Metab. 2010 May;100(1):46-50. doi: 10.1016/j.ymgme.2009.12.015. Epub 2009 Dec 28.

PMID:
20074989
7.

Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.

El-Hattab AW, Li FY, Shen J, Powell BR, Bawle EV, Adams DJ, Wahl E, Kobori JA, Graham B, Scaglia F, Wong LJ.

Genet Med. 2010 Jan;12(1):19-24. doi: 10.1097/GIM.0b013e3181c5e6f7.

PMID:
20027113
8.

Cardiomyopathy and carnitine deficiency.

Amat di San Filippo C, Taylor MR, Mestroni L, Botto LD, Longo N.

Mol Genet Metab. 2008 Jun;94(2):162-6. doi: 10.1016/j.ymgme.2008.02.002. Epub 2008 Mar 11.

9.

Carnitine membrane transporter deficiency: a rare treatable cause of cardiomyopathy and anemia.

Cano A, Ovaert C, Vianey-Saban C, Chabrol B.

Pediatr Cardiol. 2008 Jan;29(1):163-5. Epub 2007 Oct 10.

PMID:
17926086
10.

A case of early diagnosed carnitine deficiency presenting with respiratory symptoms.

Erguven M, Yilmaz O, Koc S, Caki S, Ayhan Y, Donmez M, Dolunay G.

Ann Nutr Metab. 2007;51(4):331-4. Epub 2007 Aug 28.

PMID:
17726310
11.

Expanded newborn screening identifies maternal primary carnitine deficiency.

Schimmenti LA, Crombez EA, Schwahn BC, Heese BA, Wood TC, Schroer RJ, Bentler K, Cederbaum S, Sarafoglou K, McCann M, Rinaldo P, Matern D, di San Filippo CA, Pasquali M, Berry SA, Longo N.

Mol Genet Metab. 2007 Apr;90(4):441-5. Epub 2006 Nov 28.

PMID:
17126586
12.

Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants.

Vijay S, Patterson A, Olpin S, Henderson MJ, Clark S, Day C, Savill G, Walter JH.

J Inherit Metab Dis. 2006 Oct;29(5):627-30. Epub 2006 Jul 23.

PMID:
16865412
13.

Disorders of carnitine transport and the carnitine cycle.

Longo N, Amat di San Filippo C, Pasquali M.

Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):77-85. Review.

14.

Carnitine deficiency disorders in children.

Stanley CA.

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

PMID:
15591002
15.

Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2.

Spiekerkoetter U, Huener G, Baykal T, Demirkol M, Duran M, Wanders R, Nezu J, Mayatepek E.

J Inherit Metab Dis. 2003;26(6):613-5.

PMID:
14605509
16.

Adult presentation of MCAD deficiency revealed by coma and severe arrythmias.

Feillet F, Steinmann G, Vianey-Saban C, de Chillou C, Sadoul N, Lefebvre E, Vidailhet M, Bollaert PE.

Intensive Care Med. 2003 Sep;29(9):1594-7. Epub 2003 Aug 1.

PMID:
12897989
17.

Screening newborns for inborn errors of metabolism by tandem mass spectrometry.

Wilcken B, Wiley V, Hammond J, Carpenter K.

N Engl J Med. 2003 Jun 5;348(23):2304-12.

18.

Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency.

Cederbaum SD, Koo-McCoy S, Tein I, Hsu BY, Ganguly A, Vilain E, Dipple K, Cvitanovic-Sojat L, Stanley C.

Mol Genet Metab. 2002 Nov;77(3):195-201. Erratum in: Mol Genet Metab. 2003 Jan;78(1):82.

PMID:
12409266
19.

Phenotype and genotype variation in primary carnitine deficiency.

Wang Y, Korman SH, Ye J, Gargus JJ, Gutman A, Taroni F, Garavaglia B, Longo N.

Genet Med. 2001 Nov-Dec;3(6):387-92.

PMID:
11715001
20.

Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry.

Wilcken B, Wiley V, Sim KG, Carpenter K.

J Pediatr. 2001 Apr;138(4):581-4.

PMID:
11295726
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