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Results: 1 to 20 of 116

Similar articles for PubMed (Select 20574985)

1.

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
2.

Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect.

Mutlu-Albayrak H, Bene J, Oflaz MB, Tanyalçın T, Çaksen H, Melegh B.

Case Rep Genet. 2015;2015:259627. doi: 10.1155/2015/259627. Epub 2015 May 5.

3.

Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up.

Yilmaz BS, Kor D, Mungan NO, Erdem S, Ceylaner S.

J Pediatr Endocrinol Metab. 2015 May 30. pii: /j/jpem.ahead-of-print/jpem-2014-0528/jpem-2014-0528.xml. doi: 10.1515/jpem-2014-0528. [Epub ahead of print]

PMID:
26030785
4.

[Genetics and pedigree analysis of primary carnitine deficiency cardiomyopathy in 6 cases].

Rao J, Zeng G, Wang S, Zhang Z, Li Y, Zhang C.

Zhonghua Er Ke Za Zhi. 2014 Jul;52(7):544-7. Chinese.

PMID:
25224063
5.

[Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening].

Ye J, Gong L, Han L, Qiu W, Zhang H, Gao X, Jin J, Xu H, Gu X.

Zhonghua Er Ke Za Zhi. 2014 Jun;52(6):409-14. Chinese.

PMID:
25190158
6.

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
7.

[Mutation analysis for a family affected with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency].

Lu J, Ji L.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Aug;31(4):428-32. doi: 10.3760/cma.j.issn.1003-9406.2014.04.004. Chinese.

PMID:
25119904
8.

Carnitine.

Odle J, Adams SH, Vockley J.

Adv Nutr. 2014 May 14;5(3):289-90. doi: 10.3945/an.113.005199. Print 2014 May. No abstract available.

9.

Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].

Nakajima Y, Meijer J, Dobritzsch D, Ito T, Meinsma R, Abeling NG, Roelofsen J, Zoetekouw L, Watanabe Y, Tashiro K, Lee T, Takeshima Y, Mitsubuchi H, Yoneyama A, Ohta K, Eto K, Saito K, Kuhara T, van Kuilenburg AB.

J Inherit Metab Dis. 2014 Sep;37(5):801-12. doi: 10.1007/s10545-014-9682-y. Epub 2014 Feb 14. Erratum in: J Inherit Metab Dis. 2014 Nov;37(6):1023.

10.

[Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency].

Gong LF, Ye J, Han LS, Qiu WJ, Zhang HW, Gao XL, Jin J, Xu H, Gu XF.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Oct;30(5):574-8. doi: 10.3760/cma.j.issn.1003-9406.2013.05.014. Chinese.

PMID:
24078573
11.

Hyaline fibromatosis syndrome resulting from a new homozygous missense mutation, p.Gly116Val, in ANTXR2.

Tümer L, Kasapkara C, Fong K, Serdaroğlu A, McGrath JA.

J Dermatol. 2013 Aug;40(8):677-8. doi: 10.1111/1346-8138.12182. Epub 2013 Jun 5. No abstract available.

PMID:
23734713
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.

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.

14.

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.

15.

Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests.

Wang LY, Chen NI, Chen PW, Chiang SC, Hwu WL, Lee NC, Chien YH.

BMC Med Genet. 2013 Feb 10;14:24. doi: 10.1186/1471-2350-14-24.

16.

Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype.

Shibbani K, Fahed AC, Al-Shaar L, Arabi M, Nemer G, Bitar F, Majdalani M.

Clin Genet. 2014 Feb;85(2):127-37. doi: 10.1111/cge.12112. Epub 2013 Mar 12.

PMID:
23379544
17.

Carnitine deficiency in OCTN2-/- newborn mice leads to a severe gut and immune phenotype with widespread atrophy, apoptosis and a pro-inflammatory response.

Sonne S, Shekhawat PS, Matern D, Ganapathy V, Ignatowicz L.

PLoS One. 2012;7(10):e47729. doi: 10.1371/journal.pone.0047729. Epub 2012 Oct 24.

18.

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
19.

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.

20.

[Primary carnitine deficiency in 17 patients: diagnosis, treatment and follow up].

Han LS, Ye J, Qiu WJ, Zhang HW, Wang Y, Ji WJ, Gao XL, Li XY, Jin J, Gu XF.

Zhonghua Er Ke Za Zhi. 2012 Jun;50(6):405-9. Chinese.

PMID:
22931933
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