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Items: 1 to 20 of 93

1.

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.

2.

Systemic Primary Carnitine Deficiency.

El-Hattab AW.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2012 Mar 15 [updated 2014 Jun 26].

3.

SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation.

Yoon YA, Lee DH, Ki CS, Lee SY, Kim JW, Lee YW, Park HD.

Ann Clin Lab Sci. 2012 Fall;42(4):424-8.

PMID:
23090741
4.

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
5.

Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency.

Han L, Wang F, Wang Y, Ye J, Qiu W, Zhang H, Gao X, Gong Z, Gu X.

Eur J Med Genet. 2014 Oct;57(10):571-5. doi: 10.1016/j.ejmg.2014.08.001. Epub 2014 Aug 13.

PMID:
25132046
6.

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
7.

Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency.

Rahbeeni Z, Vaz FM, Al-Hussein K, Bucknall MP, Ruiter J, Wanders RJ, Rashed MS.

J Inherit Metab Dis. 2002 Sep;25(5):363-9.

PMID:
12408185
8.

Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.

Tang NL, Ganapathy V, Wu X, Hui J, Seth P, Yuen PM, Wanders RJ, Fok TF, Hjelm NM.

Hum Mol Genet. 1999 Apr;8(4):655-60. Erratum in: Hum Mol Genet 1999 May;8(5):943.

9.

Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.

Makhseed N, Vallance HD, Potter M, Waters PJ, Wong LT, Lillquist Y, Pasquali M, Amat di San Filippo C, Longo N.

J Inherit Metab Dis. 2004;27(6):778-80.

PMID:
15617188
10.
11.

A missense mutation in the OCTN2 gene associated with residual carnitine transport activity.

Wang Y, Kelly MA, Cowan TM, Longo N.

Hum Mutat. 2000;15(3):238-45.

PMID:
10679939
12.

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.

13.

Carnitine Palmitoyltransferase 1A Deficiency.

Bennett MJ, Santani AB.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2005 Jul 27 [updated 2016 Mar 17].

14.

Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality.

Burwinkel B, Kreuder J, Schweitzer S, Vorgerd M, Gempel K, Gerbitz KD, Kilimann MW.

Biochem Biophys Res Commun. 1999 Aug 2;261(2):484-7.

PMID:
10425211
15.

Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter.

Nezu J, Tamai I, Oku A, Ohashi R, Yabuuchi H, Hashimoto N, Nikaido H, Sai Y, Koizumi A, Shoji Y, Takada G, Matsuishi T, Yoshino M, Kato H, Ohura T, Tsujimoto G, Hayakawa J, Shimane M, Tsuji A.

Nat Genet. 1999 Jan;21(1):91-4.

PMID:
9916797
16.

Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency.

Wang Y, Ye J, Ganapathy V, Longo N.

Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2356-60.

17.

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
18.

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
19.

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.

20.

Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency.

Hwu WL, Chien YH, Tang NL, Law LK, Lin CY, Lee NC.

J Inherit Metab Dis. 2007 Oct;30(5):816. Epub 2007 Aug 20.

PMID:
17703373
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